nsv6622973
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:85,257
- 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: 3777 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 3880 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622973 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nsv6622973 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282969 | duplication | OSC2338 | SNP array | Probe signal intensity | 9 |
| nssv18283618 | duplication | OSC2351 | SNP array | Probe signal intensity | 6 |
| nssv18285429 | duplication | OSC2756 | SNP array | Probe signal intensity | nssv18285656, nssv18286342, nssv18286343 |
| nssv18286035 | duplication | OSC2764 | SNP array | Probe signal intensity | 6 |
| nssv18289923 | duplication | OSC3566 | SNP array | Probe signal intensity | nssv18289922, nssv18290266, nssv18290267 |
| nssv18297350 | duplication | OSC4691 | SNP array | Probe signal intensity | nssv18296457, nssv18297349 |
| nssv18297393 | duplication | OSC4718 | SNP array | Probe signal intensity | 5 |
| nssv18297522 | duplication | OSC4811 | SNP array | Probe signal intensity | 10 |
| nssv18301746 | duplication | OSC0587 | SNP array | Probe signal intensity | 6 |
| nssv18308378 | duplication | OSC0724 | SNP array | Probe signal intensity | 8 |
| nssv18319953 | duplication | OSC0973 | SNP array | Probe signal intensity | 6 |
| nssv18320606 | duplication | OSC0997 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282969 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18283618 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18285429 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18286035 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18289923 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18297350 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18297393 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18297522 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18301746 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18308378 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18319953 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18320606 | Remapped | Perfect | NC_000015.10:g.(?_ 22095296)_(2218055 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,095,296 | 22,180,552 |
| nssv18282969 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18283618 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18285429 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18286035 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18289923 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18297350 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18297393 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18297522 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18301746 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18308378 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18319953 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 | ||
| nssv18320606 | Submitted genomic | NC_000015.9:g.(?_2 2383247)_(22468503 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,383,247 | 22,468,503 |