nsv3122837
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:205,618
- 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: 562 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 562 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3122837 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 71,480,880 | 71,686,497 |
| nsv3122837 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 71,708,010 | 71,913,627 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14124109 | copy number loss | Sequencing | Read depth |
| nssv14126882 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14124109 | Remapped | Perfect | NC_000002.12:g.(?_ 71480880)_(7168649 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 71,480,880 | 71,686,497 |
| nssv14126882 | Remapped | Perfect | NC_000002.12:g.(?_ 71480880)_(7168649 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 71,480,880 | 71,686,497 |
| nssv14124109 | Submitted genomic | NC_000002.11:g.(?_ 71708010)_(7191362 7_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 71,708,010 | 71,913,627 | ||
| nssv14126882 | Submitted genomic | NC_000002.11:g.(?_ 71708010)_(7191362 7_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 71,708,010 | 71,913,627 |