nsv3132817
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:168
- Description:
See descriptions for individual calls in download files - Publication(s):Exome Aggregation Consortium CNVs
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 131 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3132817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nsv3132817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14110301 | copy number gain | Sequencing | Read depth |
| nssv14110412 | copy number gain | Sequencing | Read depth |
| nssv14110840 | copy number gain | Sequencing | Read depth |
| nssv14111080 | copy number loss | Sequencing | Read depth |
| nssv14111884 | copy number gain | Sequencing | Read depth |
| nssv14113943 | copy number loss | Sequencing | Read depth |
| nssv14115060 | copy number loss | Sequencing | Read depth |
| nssv14115576 | copy number gain | Sequencing | Read depth |
| nssv14116073 | copy number loss | Sequencing | Read depth |
| nssv14116467 | copy number loss | Sequencing | Read depth |
| nssv14116923 | copy number gain | Sequencing | Read depth |
| nssv14117143 | copy number gain | Sequencing | Read depth |
| nssv14117300 | copy number loss | Sequencing | Read depth |
| nssv14118125 | copy number loss | Sequencing | Read depth |
| nssv14118898 | copy number gain | Sequencing | Read depth |
| nssv14119761 | copy number loss | Sequencing | Read depth |
| nssv14121556 | copy number gain | Sequencing | Read depth |
| nssv14122391 | copy number gain | Sequencing | Read depth |
| nssv14122562 | copy number gain | Sequencing | Read depth |
| nssv14123954 | copy number gain | Sequencing | Read depth |
| nssv14124472 | copy number loss | Sequencing | Read depth |
| nssv14125051 | copy number gain | Sequencing | Read depth |
| nssv14125748 | copy number gain | Sequencing | Read depth |
| nssv14126299 | copy number gain | Sequencing | Read depth |
| nssv14126529 | copy number loss | Sequencing | Read depth |
| nssv14128752 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14110301 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14110412 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14110840 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14111080 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14111884 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14113943 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14115060 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14115576 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14116073 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14116467 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14116923 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14117143 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14117300 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14118125 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14118898 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14119761 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14121556 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14122391 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14122562 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14123954 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14124472 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14125051 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14125748 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14126299 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14126529 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14128752 | Remapped | Perfect | NC_000001.11:g.(?_ 114709566)_(114709 733_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,709,566 | 114,709,733 |
| nssv14110301 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14110412 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14110840 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14111080 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14111884 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14113943 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14115060 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14115576 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14116073 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14116467 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14116923 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14117143 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14117300 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14118125 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14118898 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14119761 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14121556 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14122391 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14122562 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14123954 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14124472 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14125051 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14125748 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14126299 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14126529 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 | ||
| nssv14128752 | Submitted genomic | NC_000001.10:g.(?_ 115252187)_(115252 354_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,252,187 | 115,252,354 |