nsv874647
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:179,428
- 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: 1769 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1777 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 951 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv874647 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nsv874647 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nsv874647 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1525213 | copy number loss | SP56356 | SNP array | SNP genotyping analysis | 6 |
| nssv1542633 | copy number loss | MS15813 | SNP array | SNP genotyping analysis | 16 |
| nssv1546301 | copy number loss | MS17130 | SNP array | SNP genotyping analysis | 28 |
| nssv1549521 | copy number gain | MS18256 | SNP array | SNP genotyping analysis | 8 |
| nssv1565103 | copy number gain | IS30363 | SNP array | SNP genotyping analysis | 14 |
| nssv1565356 | copy number loss | IS30406 | SNP array | SNP genotyping analysis | 14 |
| nssv1581228 | copy number loss | IS35545 | SNP array | SNP genotyping analysis | 15 |
| nssv1582194 | copy number gain | IS35833 | SNP array | SNP genotyping analysis | 19 |
| nssv1584059 | copy number loss | IS36789 | SNP array | SNP genotyping analysis | 13 |
| nssv1589956 | copy number gain | IS38436 | SNP array | SNP genotyping analysis | 18 |
| nssv1590242 | copy number loss | IS38475 | SNP array | SNP genotyping analysis | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1525213 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1542633 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1546301 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1549521 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1565103 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1565356 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1581228 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1582194 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1584059 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1589956 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1590242 | Remapped | Good | NC_000002.12:g.(90 055411_90055411)_( 90234838_90234838) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,055,411 | 90,055,411 | 90,234,838 | 90,234,838 |
| nssv1525213 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1542633 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1546301 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1549521 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1565103 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1565356 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1581228 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1582194 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1584059 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1589956 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1590242 | Remapped | Perfect | NC_000002.11:g.(90 094257_90106160)_( 90247720_90273705) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 90,094,257 | 90,106,160 | 90,247,720 | 90,273,705 |
| nssv1525213 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 | ||
| nssv1542633 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 | ||
| nssv1546301 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 | ||
| nssv1549521 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 | ||
| nssv1565103 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 | ||
| nssv1565356 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 | ||
| nssv1581228 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 | ||
| nssv1582194 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 | ||
| nssv1584059 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 | ||
| nssv1589956 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 | ||
| nssv1590242 | Submitted genomic | NC_000002.10:g.(89 731562_89743465)_( 89885025_89911010) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 89,731,562 | 89,743,465 | 89,885,025 | 89,911,010 |