nsv3125564
- 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:104,449
- 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: 1018 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 1177 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3125564 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 60,400,249 | 60,504,697 |
| nsv3125564 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 57,372,286 | 57,472,444 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14149752 | copy number loss | Sequencing | Read depth |
| nssv14150629 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14149752 | Remapped | Good | NC_000006.12:g.(?_ 60400249)_(6050469 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 60,400,249 | 60,504,697 |
| nssv14150629 | Remapped | Good | NC_000006.12:g.(?_ 60400249)_(6050469 7_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 60,400,249 | 60,504,697 |
| nssv14149752 | Submitted genomic | NC_000006.11:g.(?_ 57372286)_(5747244 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,372,286 | 57,472,444 | ||
| nssv14150629 | Submitted genomic | NC_000006.11:g.(?_ 57372286)_(5747244 4_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,372,286 | 57,472,444 |