nsv600981
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:61,042
- 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: 534 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 534 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv600981 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 10,467,520 | 10,528,561 |
| nsv600981 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654713.1 | Chr6|NW_01 8654713.1 | 1 | 39,445 |
| nsv600981 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 10,467,753 | 10,528,794 |
| nsv600981 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 10,575,739 | 10,636,780 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1049399 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1049400 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1153629 | copy number loss | HGDP00795 | SNP array | SNP genotyping analysis | nssv1150949, nssv1153690 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1049399 | Remapped | Pass | NW_018654713.1:g.( ?_1)_(39445_?)del | GRCh38.p12 | Second Pass | NW_018654713.1 | Chr6|NW_01 8654713.1 | 1 | 39,445 |
| nssv1049400 | Remapped | Pass | NW_018654713.1:g.( ?_1)_(39445_?)del | GRCh38.p12 | Second Pass | NW_018654713.1 | Chr6|NW_01 8654713.1 | 1 | 39,445 |
| nssv1153629 | Remapped | Pass | NW_018654713.1:g.( ?_1)_(39445_?)del | GRCh38.p12 | Second Pass | NW_018654713.1 | Chr6|NW_01 8654713.1 | 1 | 39,445 |
| nssv1049399 | Remapped | Perfect | NC_000006.12:g.(?_ 10467520)_(1052856 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 10,467,520 | 10,528,561 |
| nssv1049400 | Remapped | Perfect | NC_000006.12:g.(?_ 10467520)_(1052856 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 10,467,520 | 10,528,561 |
| nssv1153629 | Remapped | Perfect | NC_000006.12:g.(?_ 10467520)_(1052856 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 10,467,520 | 10,528,561 |
| nssv1049399 | Remapped | Perfect | NC_000006.11:g.(?_ 10467753)_(1052879 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 10,467,753 | 10,528,794 |
| nssv1049400 | Remapped | Perfect | NC_000006.11:g.(?_ 10467753)_(1052879 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 10,467,753 | 10,528,794 |
| nssv1153629 | Remapped | Perfect | NC_000006.11:g.(?_ 10467753)_(1052879 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 10,467,753 | 10,528,794 |
| nssv1049399 | Submitted genomic | NC_000006.10:g.(?_ 10575739)_(1063678 0_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 10,575,739 | 10,636,780 | ||
| nssv1049400 | Submitted genomic | NC_000006.10:g.(?_ 10575739)_(1063678 0_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 10,575,739 | 10,636,780 | ||
| nssv1153629 | Submitted genomic | NC_000006.10:g.(?_ 10575739)_(1063678 0_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 10,575,739 | 10,636,780 |