nsv605598
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76,795
- Publication(s):Cooper et al. 2011
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: 940 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 476 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 466 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 940 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 384 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv605598 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 123,956 | 197,267 |
| nsv605598 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 116,277 | 189,588 |
| nsv605598 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 79,877 | 156,671 |
| nsv605598 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 123,956 | 197,267 |
| nsv605598 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 219,039 | 292,350 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1077606 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1077606 | Remapped | Good | NT_187558.1:g.(?_7 9877)_(156671_?)de l | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 79,877 | 156,671 |
| nssv1077606 | Remapped | Perfect | NT_187653.1:g.(?_1 16277)_(189588_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 116,277 | 189,588 |
| nssv1077606 | Remapped | Perfect | NC_000007.14:g.(?_ 123956)_(197267_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 123,956 | 197,267 |
| nssv1077606 | Remapped | Perfect | NC_000007.13:g.(?_ 123956)_(197267_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 123,956 | 197,267 |
| nssv1077606 | Submitted genomic | NC_000007.12:g.(?_ 219039)_(292350_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 219,039 | 292,350 |