nsv4369549
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,754
- 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: 381 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 63 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4369549 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 89,345,472 | 89,370,225 |
nsv4369549 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 89,394,622 | 89,419,375 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15632434 | copy number loss | 10-0005-003 | SNP array | Genotyping | 11 |
nssv15678667 | copy number loss | 165011 | SNP array | Genotyping | 30 |
nssv15697129 | copy number loss | 153924 | SNP array | Genotyping | 13 |
nssv15698637 | copy number loss | 159008 | SNP array | Genotyping | 21 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15632434 | Remapped | Perfect | NC_000003.12:g.(?_ 89345472)_(8937022 5_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,345,472 | 89,370,225 |
nssv15678667 | Remapped | Perfect | NC_000003.12:g.(?_ 89345472)_(8937022 5_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,345,472 | 89,370,225 |
nssv15697129 | Remapped | Perfect | NC_000003.12:g.(?_ 89345472)_(8937022 5_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,345,472 | 89,370,225 |
nssv15698637 | Remapped | Perfect | NC_000003.12:g.(?_ 89345472)_(8937022 5_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,345,472 | 89,370,225 |
nssv15632434 | Submitted genomic | NC_000003.11:g.(?_ 89394622)_(8941937 5_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,622 | 89,419,375 | ||
nssv15678667 | Submitted genomic | NC_000003.11:g.(?_ 89394622)_(8941937 5_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,622 | 89,419,375 | ||
nssv15697129 | Submitted genomic | NC_000003.11:g.(?_ 89394622)_(8941937 5_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,622 | 89,419,375 | ||
nssv15698637 | Submitted genomic | NC_000003.11:g.(?_ 89394622)_(8941937 5_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,622 | 89,419,375 |