nsv4627093
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:88,441
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: 485 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 485 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4627093 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 88,913,188 | 89,001,628 |
| nsv4627093 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 89,456,419 | 89,544,859 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16135383 | duplication | Curated | Curated |
| nssv16143507 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16135383 | Remapped | Perfect | NC_000015.10:g.(?_ 88913188)_(8900162 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 88,913,188 | 89,001,628 |
| nssv16143507 | Remapped | Perfect | NC_000015.10:g.(?_ 88913188)_(8900162 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 88,913,188 | 89,001,628 |
| nssv16135383 | Submitted genomic | NC_000015.9:g.(?_8 9456419)_(89544859 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 89,456,419 | 89,544,859 | ||
| nssv16143507 | Submitted genomic | NC_000015.9:g.(?_8 9456419)_(89544859 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 89,456,419 | 89,544,859 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16135383 | 0.025 | 1 | 40 |
| nssv16143507 | 0.018 | 8 | 450 |