nsv4381254
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:110,094
- Publication(s):Zarrei 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: 360 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 622 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4381254 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nsv4381254 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15616253 | copy number gain | 1-0794-003 | SNP array | Genotyping | 18 |
| nssv15617474 | copy number gain | 1-0820-003 | SNP array | Genotyping | 18 |
| nssv15619347 | copy number gain | 1-0898-003 | SNP array | Genotyping | 19 |
| nssv15628406 | copy number gain | 1-0522-001 | SNP array | Genotyping | 20 |
| nssv15634222 | copy number gain | 11-0001-004 | SNP array | Genotyping | 19 |
| nssv15636477 | copy number gain | 13-0078-001 | SNP array | Genotyping | 29 |
| nssv15637982 | copy number gain | 14-0056-004 | SNP array | Genotyping | 21 |
| nssv15638041 | copy number gain | 14-0063-002 | SNP array | Genotyping | 24 |
| nssv15654823 | copy number gain | 3-0511-000 | SNP array | Genotyping | 23 |
| nssv15668594 | copy number gain | 7-0202-003 | SNP array | Genotyping | 32 |
| nssv15682168 | copy number gain | 219367 | SNP array | Genotyping | 17 |
| nssv15684838 | copy number gain | OCD167-8961213 | SNP array | Genotyping | 21 |
| nssv15685760 | copy number loss | OCD179-DN-1761 | SNP array | Genotyping | 25 |
| nssv15695606 | copy number loss | 211990 | SNP array | Genotyping | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15616253 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15617474 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15619347 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15628406 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15634222 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15636477 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15637982 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15638041 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15654823 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15668594 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15682168 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15684838 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15685760 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15695606 | Remapped | Perfect | NT_187614.1:g.(?_2 179531)_(2289624_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,179,531 | 2,289,624 |
| nssv15616253 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15617474 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15619347 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15628406 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15634222 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15636477 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15637982 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15638041 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15654823 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15668594 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15682168 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15684838 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15685760 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 | ||
| nssv15695606 | Submitted genomic | NC_000017.10:g.(?_ 36300466)_(3641055 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,300,466 | 36,410,559 |