nsv470362
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:182,156
- Publication(s):Jakobsson et al. 2008
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: 770 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 770 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470362 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 125,970,935 | 126,153,090 |
| nsv470362 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 125,104,917 | 125,287,073 |
| nsv470362 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 124,932,598 | 125,114,754 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv547052 | copy number loss | HGDP00932 | SNP array | SNP genotyping analysis | 3 | 5 | |
| nssv547053 | copy number loss | HGDP00944 | SNP array | SNP genotyping analysis | 3 | 10 | |
| nssv547055 | copy number loss | HGDP00924 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 7 |
| nssv547056 | copy number loss | HGDP00926 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 10 |
| nssv547057 | copy number loss | HGDP00939 | SNP array | SNP genotyping analysis | 1 | Heterozygous | nssv545067, nssv545954, nssv547755 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv547052 | Remapped | Good | NC_000023.11:g.(?_ 125970935)_(126153 090_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 125,970,935 | 126,153,090 |
| nssv547053 | Remapped | Good | NC_000023.11:g.(?_ 125970935)_(126153 090_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 125,970,935 | 126,153,090 |
| nssv547055 | Remapped | Good | NC_000023.11:g.(?_ 125970935)_(126153 090_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 125,970,935 | 126,153,090 |
| nssv547056 | Remapped | Good | NC_000023.11:g.(?_ 125970935)_(126153 090_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 125,970,935 | 126,153,090 |
| nssv547057 | Remapped | Good | NC_000023.11:g.(?_ 125970935)_(126153 090_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 125,970,935 | 126,153,090 |
| nssv547052 | Remapped | Perfect | NC_000023.10:g.(?_ 125104917)_(125287 073_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 125,104,917 | 125,287,073 |
| nssv547053 | Remapped | Perfect | NC_000023.10:g.(?_ 125104917)_(125287 073_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 125,104,917 | 125,287,073 |
| nssv547055 | Remapped | Perfect | NC_000023.10:g.(?_ 125104917)_(125287 073_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 125,104,917 | 125,287,073 |
| nssv547056 | Remapped | Perfect | NC_000023.10:g.(?_ 125104917)_(125287 073_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 125,104,917 | 125,287,073 |
| nssv547057 | Remapped | Perfect | NC_000023.10:g.(?_ 125104917)_(125287 073_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 125,104,917 | 125,287,073 |
| nssv547052 | Submitted genomic | NC_000023.9:g.(?_1 24932598)_(1251147 54_?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 124,932,598 | 125,114,754 | ||
| nssv547053 | Submitted genomic | NC_000023.9:g.(?_1 24932598)_(1251147 54_?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 124,932,598 | 125,114,754 | ||
| nssv547055 | Submitted genomic | NC_000023.9:g.(?_1 24932598)_(1251147 54_?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 124,932,598 | 125,114,754 | ||
| nssv547056 | Submitted genomic | NC_000023.9:g.(?_1 24932598)_(1251147 54_?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 124,932,598 | 125,114,754 | ||
| nssv547057 | Submitted genomic | NC_000023.9:g.(?_1 24932598)_(1251147 54_?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 124,932,598 | 125,114,754 |