nsv3125183
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:171,446
- Description:qual score = 99
- 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: 663 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 663 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3125183 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 22,489,946 | 22,661,391 |
| nsv3125183 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 22,816,439 | 22,987,884 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14128224 | copy number gain | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14128224 | Remapped | Perfect | NC_000001.11:g.(?_ 22489946)_(2266139 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 22,489,946 | 22,661,391 |
| nssv14128224 | Submitted genomic | NC_000001.10:g.(?_ 22816439)_(2298788 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 22,816,439 | 22,987,884 |