nsv555400
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,207
- 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: 341 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 316 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv555400 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 71,113,917 | 71,174,123 |
| nsv555400 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 70,824,963 | 70,885,169 |
| nsv555400 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 608,130 | 668,336 |
| nsv555400 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 70,502,611 | 70,562,817 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1174830 | copy number gain | HGDP00727 | SNP array | SNP genotyping analysis | 9 |
| nssv778983 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1174830 | Remapped | Perfect | NC_000011.10:g.(?_ 71113917)_(7117412 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 71,113,917 | 71,174,123 |
| nssv778983 | Remapped | Perfect | NC_000011.10:g.(?_ 71113917)_(7117412 3_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 71,113,917 | 71,174,123 |
| nssv1174830 | Remapped | Perfect | NW_004070871.1:g.( ?_608130)_(668336_ ?)dup | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 608,130 | 668,336 |
| nssv778983 | Remapped | Perfect | NW_004070871.1:g.( ?_608130)_(668336_ ?)del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 608,130 | 668,336 |
| nssv1174830 | Remapped | Perfect | NC_000011.9:g.(?_7 0824963)_(70885169 _?)dup | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 70,824,963 | 70,885,169 |
| nssv778983 | Remapped | Perfect | NC_000011.9:g.(?_7 0824963)_(70885169 _?)del | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 70,824,963 | 70,885,169 |
| nssv1174830 | Submitted genomic | NC_000011.8:g.(?_7 0502611)_(70562817 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 70,502,611 | 70,562,817 | ||
| nssv778983 | Submitted genomic | NC_000011.8:g.(?_7 0502611)_(70562817 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 70,502,611 | 70,562,817 |