nsv586478
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:929
- 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: 149 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv586478 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nsv586478 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nsv586478 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv942044 | copy number loss | SNP array | SNP genotyping analysis |
| nssv942045 | copy number loss | SNP array | SNP genotyping analysis |
| nssv942046 | copy number loss | SNP array | SNP genotyping analysis |
| nssv942047 | copy number loss | SNP array | SNP genotyping analysis |
| nssv942048 | copy number loss | SNP array | SNP genotyping analysis |
| nssv942049 | copy number loss | SNP array | SNP genotyping analysis |
| nssv942050 | copy number loss | SNP array | SNP genotyping analysis |
| nssv942051 | copy number gain | SNP array | SNP genotyping analysis |
| nssv942052 | copy number loss | SNP array | SNP genotyping analysis |
| nssv942053 | copy number loss | SNP array | SNP genotyping analysis |
| nssv942054 | copy number loss | SNP array | SNP genotyping analysis |
| nssv942055 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv942044 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942045 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942046 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942047 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942048 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942049 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942050 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942051 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942052 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942053 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942054 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942055 | Remapped | Perfect | NC_000020.11:g.(?_ 62143364)_(6214429 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,364 | 62,144,292 |
| nssv942044 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942045 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942046 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942047 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942048 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942049 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942050 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942051 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942052 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942053 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942054 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942055 | Remapped | Perfect | NC_000020.10:g.(?_ 60718420)_(6071934 8_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,718,420 | 60,719,348 |
| nssv942044 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942045 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942046 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942047 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942048 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942049 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942050 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942051 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942052 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942053 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942054 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 | ||
| nssv942055 | Submitted genomic | NC_000020.9:g.(?_6 0151815)_(60152743 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,151,815 | 60,152,743 |