nsv958971
- Organism: Homo sapiens
- Study:nstd86 (Poultney et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:237,411
- Publication(s):Poultney et al. 2013
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: 569 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 569 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv958971 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 48,268,980 | 48,506,390 |
| nsv958971 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 48,308,577 | 48,545,986 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3021507 | deletion | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv3021507 | Remapped | Perfect | NC_000007.14:g.(48 249351_48249351)_( 48507872_48507872) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,249,351 | 48,249,351 | 48,507,872 | 48,507,872 |
| nssv3021507 | Submitted genomic | NC_000007.13:g.(48 288948_48308577)_( 48545986_48547468) del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,288,948 | 48,308,577 | 48,545,986 | 48,547,468 |