nsv3318478
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,380
- Publication(s):Frenkel et al. 2019
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: 903 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 914 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318478 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nsv3318478 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467784 | copy number loss | M2104 | SNP array | SNP genotyping analysis | 21 |
| nssv14467853 | copy number loss | M2112 | SNP array | SNP genotyping analysis | 22 |
| nssv14467921 | copy number loss | M2116 | SNP array | SNP genotyping analysis | 21 |
| nssv14467937 | copy number loss | M2117 | SNP array | SNP genotyping analysis | 13 |
| nssv14468571 | copy number loss | M2165 | SNP array | SNP genotyping analysis | 17 |
| nssv14469001 | copy number loss | M2194 | SNP array | SNP genotyping analysis | 21 |
| nssv14469213 | copy number loss | M2216 | SNP array | SNP genotyping analysis | 19 |
| nssv14469661 | copy number loss | M2257 | SNP array | SNP genotyping analysis | 24 |
| nssv14469710 | copy number loss | M2259 | SNP array | SNP genotyping analysis | 17 |
| nssv14469898 | copy number loss | M2281 | SNP array | SNP genotyping analysis | 30 |
| nssv14470002 | copy number loss | M2296 | SNP array | SNP genotyping analysis | 15 |
| nssv14470072 | copy number loss | M2304 | SNP array | SNP genotyping analysis | 18 |
| nssv14470091 | copy number loss | M2306 | SNP array | SNP genotyping analysis | 19 |
| nssv14470474 | copy number loss | M2342 | SNP array | SNP genotyping analysis | 13 |
| nssv14470527 | copy number loss | M2354 | SNP array | SNP genotyping analysis | 21 |
| nssv14470745 | copy number loss | M2372 | SNP array | SNP genotyping analysis | 17 |
| nssv14471022 | copy number loss | M2399 | SNP array | SNP genotyping analysis | 15 |
| nssv14471081 | copy number loss | M2404 | SNP array | SNP genotyping analysis | 19 |
| nssv14471101 | copy number loss | M2406 | SNP array | SNP genotyping analysis | 18 |
| nssv14471143 | copy number loss | M2411 | SNP array | SNP genotyping analysis | 14 |
| nssv14471345 | copy number loss | M2433 | SNP array | SNP genotyping analysis | 21 |
| nssv14471410 | copy number loss | M2438 | SNP array | SNP genotyping analysis | 18 |
| nssv14471456 | copy number loss | M2452 | SNP array | SNP genotyping analysis | 23 |
| nssv14471811 | copy number loss | M2495 | SNP array | SNP genotyping analysis | 13 |
| nssv14471888 | copy number loss | M2501 | SNP array | SNP genotyping analysis | 18 |
| nssv14471953 | copy number loss | M2507 | SNP array | SNP genotyping analysis | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467784 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14467853 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14467921 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14467937 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14468571 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14469001 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14469213 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14469661 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14469710 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14469898 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14470002 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14470072 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14470091 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14470474 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14470527 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14470745 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14471022 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14471081 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14471101 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14471143 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14471345 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14471410 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14471456 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14471811 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14471888 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14471953 | Remapped | Perfect | NC_000007.14:g.(?_ 62688628)_(6270200 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,688,628 | 62,702,007 |
| nssv14467784 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14467853 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14467921 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14467937 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14468571 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14469001 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14469213 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14469661 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14469710 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14469898 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14470002 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14470072 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14470091 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14470474 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14470527 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14470745 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14471022 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14471081 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14471101 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14471143 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14471345 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14471410 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14471456 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14471811 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14471888 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 | ||
| nssv14471953 | Submitted genomic | NC_000007.13:g.(?_ 62149006)_(6216238 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,149,006 | 62,162,385 |