nsv6631041
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:93,364
- Publication(s):Zarrei et al. 2023
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: 1327 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1327 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631041 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nsv6631041 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281729 | deletion | OSC2113 | SNP array | Probe signal intensity | 6 |
| nssv18288682 | duplication | OSC3333 | SNP array | Probe signal intensity | 12 |
| nssv18288985 | deletion | OSC3337 | SNP array | Probe signal intensity | nssv18288687, nssv18288984, nssv18289044 |
| nssv18291896 | duplication | OSC3906 | SNP array | Probe signal intensity | nssv18291663, nssv18292249 |
| nssv18294630 | deletion | OSC4281 | SNP array | Probe signal intensity | 5 |
| nssv18296194 | duplication | OSC4521 | SNP array | Probe signal intensity | 9 |
| nssv18297259 | deletion | OSC4861 | SNP array | Probe signal intensity | 7 |
| nssv18297419 | duplication | OSC4735 | SNP array | Probe signal intensity | 10 |
| nssv18297587 | deletion | OSC4870 | SNP array | Probe signal intensity | nssv18297584, nssv18297585, nssv18297586 |
| nssv18297639 | deletion | OSC4882 | SNP array | Probe signal intensity | 6 |
| nssv18297928 | deletion | OSC5092 | SNP array | Probe signal intensity | 5 |
| nssv18298576 | deletion | OSC4922 | SNP array | Probe signal intensity | 5 |
| nssv18299440 | deletion | OSC5365 | SNP array | Probe signal intensity | 8 |
| nssv18299757 | deletion | OSC5343 | SNP array | Probe signal intensity | 10 |
| nssv18300692 | deletion | OSC5615 | SNP array | Probe signal intensity | 6 |
| nssv18301314 | deletion | OSC5600 | SNP array | Probe signal intensity | 10 |
| nssv18301332 | deletion | OSC5584 | SNP array | Probe signal intensity | nssv18301003 |
| nssv18312921 | deletion | OSC0804 | SNP array | Probe signal intensity | nssv18312924, nssv18313153 |
| nssv18322461 | duplication | OSC1464 | SNP array | Probe signal intensity | 14 |
| nssv18323768 | duplication | OSC1740 | SNP array | Probe signal intensity | 6 |
| nssv18325246 | duplication | OSC1867 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281729 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18288682 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18288985 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18291896 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18294630 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18296194 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18297259 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18297419 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18297587 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18297639 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18297928 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18298576 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18299440 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18299757 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18300692 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18301314 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18301332 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18312921 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18322461 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18323768 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18325246 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148584 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,485,841 |
| nssv18281729 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18288682 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18288985 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18291896 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18294630 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18296194 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18297259 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18297419 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18297587 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18297639 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18297928 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18298576 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18299440 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18299757 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18300692 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18301314 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18301332 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18312921 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18322461 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18323768 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 | ||
| nssv18325246 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145361 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,453,618 |