nsv875539
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:130,443
- Publication(s):Xu 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: 502 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 502 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 156 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv875539 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 185,480,421 | 185,488,232 | 185,569,731 | 185,610,863 |
| nsv875539 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 186,345,148 | 186,352,959 | 186,434,458 | 186,475,590 |
| nsv875539 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 186,053,393 | 186,061,204 | 186,142,703 | 186,183,835 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1522000 | copy number loss | SP52694 | SNP array | SNP genotyping analysis | 43 |
| nssv1532224 | copy number loss | MS10737 | SNP array | SNP genotyping analysis | 67 |
| nssv1535546 | copy number loss | MS12266 | SNP array | SNP genotyping analysis | 58 |
| nssv1537919 | copy number loss | MS13426 | SNP array | SNP genotyping analysis | 38 |
| nssv1561807 | copy number loss | MS25241 | SNP array | SNP genotyping analysis | 13 |
| nssv1588815 | copy number loss | IS38254 | SNP array | SNP genotyping analysis | 15 |
| nssv1594942 | copy number loss | IS40067 | SNP array | SNP genotyping analysis | 96 |
| nssv1595911 | copy number loss | IS40368 | SNP array | SNP genotyping analysis | 50 |
| nssv1596601 | copy number gain | IS40573 | SNP array | SNP genotyping analysis | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1522000 | Remapped | Perfect | NC_000002.12:g.(18 5480421_185488232) _(185569731_185610 863)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,480,421 | 185,488,232 | 185,569,731 | 185,610,863 |
| nssv1532224 | Remapped | Perfect | NC_000002.12:g.(18 5480421_185488232) _(185569731_185610 863)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,480,421 | 185,488,232 | 185,569,731 | 185,610,863 |
| nssv1535546 | Remapped | Perfect | NC_000002.12:g.(18 5480421_185488232) _(185569731_185610 863)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,480,421 | 185,488,232 | 185,569,731 | 185,610,863 |
| nssv1537919 | Remapped | Perfect | NC_000002.12:g.(18 5480421_185488232) _(185569731_185610 863)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,480,421 | 185,488,232 | 185,569,731 | 185,610,863 |
| nssv1561807 | Remapped | Perfect | NC_000002.12:g.(18 5480421_185488232) _(185569731_185610 863)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,480,421 | 185,488,232 | 185,569,731 | 185,610,863 |
| nssv1588815 | Remapped | Perfect | NC_000002.12:g.(18 5480421_185488232) _(185569731_185610 863)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,480,421 | 185,488,232 | 185,569,731 | 185,610,863 |
| nssv1594942 | Remapped | Perfect | NC_000002.12:g.(18 5480421_185488232) _(185569731_185610 863)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,480,421 | 185,488,232 | 185,569,731 | 185,610,863 |
| nssv1595911 | Remapped | Perfect | NC_000002.12:g.(18 5480421_185488232) _(185569731_185610 863)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,480,421 | 185,488,232 | 185,569,731 | 185,610,863 |
| nssv1596601 | Remapped | Perfect | NC_000002.12:g.(18 5480421_185488232) _(185569731_185610 863)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,480,421 | 185,488,232 | 185,569,731 | 185,610,863 |
| nssv1522000 | Remapped | Perfect | NC_000002.11:g.(18 6345148_186352959) _(186434458_186475 590)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 186,345,148 | 186,352,959 | 186,434,458 | 186,475,590 |
| nssv1532224 | Remapped | Perfect | NC_000002.11:g.(18 6345148_186352959) _(186434458_186475 590)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 186,345,148 | 186,352,959 | 186,434,458 | 186,475,590 |
| nssv1535546 | Remapped | Perfect | NC_000002.11:g.(18 6345148_186352959) _(186434458_186475 590)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 186,345,148 | 186,352,959 | 186,434,458 | 186,475,590 |
| nssv1537919 | Remapped | Perfect | NC_000002.11:g.(18 6345148_186352959) _(186434458_186475 590)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 186,345,148 | 186,352,959 | 186,434,458 | 186,475,590 |
| nssv1561807 | Remapped | Perfect | NC_000002.11:g.(18 6345148_186352959) _(186434458_186475 590)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 186,345,148 | 186,352,959 | 186,434,458 | 186,475,590 |
| nssv1588815 | Remapped | Perfect | NC_000002.11:g.(18 6345148_186352959) _(186434458_186475 590)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 186,345,148 | 186,352,959 | 186,434,458 | 186,475,590 |
| nssv1594942 | Remapped | Perfect | NC_000002.11:g.(18 6345148_186352959) _(186434458_186475 590)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 186,345,148 | 186,352,959 | 186,434,458 | 186,475,590 |
| nssv1595911 | Remapped | Perfect | NC_000002.11:g.(18 6345148_186352959) _(186434458_186475 590)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 186,345,148 | 186,352,959 | 186,434,458 | 186,475,590 |
| nssv1596601 | Remapped | Perfect | NC_000002.11:g.(18 6345148_186352959) _(186434458_186475 590)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 186,345,148 | 186,352,959 | 186,434,458 | 186,475,590 |
| nssv1522000 | Submitted genomic | NC_000002.10:g.(18 6053393_186061204) _(186142703_186183 835)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 186,053,393 | 186,061,204 | 186,142,703 | 186,183,835 | ||
| nssv1532224 | Submitted genomic | NC_000002.10:g.(18 6053393_186061204) _(186142703_186183 835)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 186,053,393 | 186,061,204 | 186,142,703 | 186,183,835 | ||
| nssv1535546 | Submitted genomic | NC_000002.10:g.(18 6053393_186061204) _(186142703_186183 835)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 186,053,393 | 186,061,204 | 186,142,703 | 186,183,835 | ||
| nssv1537919 | Submitted genomic | NC_000002.10:g.(18 6053393_186061204) _(186142703_186183 835)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 186,053,393 | 186,061,204 | 186,142,703 | 186,183,835 | ||
| nssv1561807 | Submitted genomic | NC_000002.10:g.(18 6053393_186061204) _(186142703_186183 835)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 186,053,393 | 186,061,204 | 186,142,703 | 186,183,835 | ||
| nssv1588815 | Submitted genomic | NC_000002.10:g.(18 6053393_186061204) _(186142703_186183 835)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 186,053,393 | 186,061,204 | 186,142,703 | 186,183,835 | ||
| nssv1594942 | Submitted genomic | NC_000002.10:g.(18 6053393_186061204) _(186142703_186183 835)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 186,053,393 | 186,061,204 | 186,142,703 | 186,183,835 | ||
| nssv1595911 | Submitted genomic | NC_000002.10:g.(18 6053393_186061204) _(186142703_186183 835)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 186,053,393 | 186,061,204 | 186,142,703 | 186,183,835 | ||
| nssv1596601 | Submitted genomic | NC_000002.10:g.(18 6053393_186061204) _(186142703_186183 835)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 186,053,393 | 186,061,204 | 186,142,703 | 186,183,835 |