nsv4371597
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,284
- 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: 293 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 55 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4371597 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 118,491,626 | 118,521,909 |
nsv4371597 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 118,131,680 | 118,161,963 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15613228 | copy number loss | 1-0679-003 | SNP array | Genotyping | 21 |
nssv15617403 | copy number loss | 1-0843-003 | SNP array | Genotyping | 27 |
nssv15641099 | copy number loss | 14-0382-004 | SNP array | Genotyping | 29 |
nssv15641851 | copy number loss | 14-0277-002 | SNP array | Genotyping | 19 |
nssv15642173 | copy number loss | 16-1001-004 | SNP array | Genotyping | 36 |
nssv15644760 | copy number loss | 16-1001-003 | SNP array | Genotyping | 29 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15613228 | Remapped | Perfect | NC_000007.14:g.(?_ 118491626)_(118521 909_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 118,491,626 | 118,521,909 |
nssv15617403 | Remapped | Perfect | NC_000007.14:g.(?_ 118491626)_(118521 909_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 118,491,626 | 118,521,909 |
nssv15641099 | Remapped | Perfect | NC_000007.14:g.(?_ 118491626)_(118521 909_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 118,491,626 | 118,521,909 |
nssv15641851 | Remapped | Perfect | NC_000007.14:g.(?_ 118491626)_(118521 909_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 118,491,626 | 118,521,909 |
nssv15642173 | Remapped | Perfect | NC_000007.14:g.(?_ 118491626)_(118521 909_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 118,491,626 | 118,521,909 |
nssv15644760 | Remapped | Perfect | NC_000007.14:g.(?_ 118491626)_(118521 909_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 118,491,626 | 118,521,909 |
nssv15613228 | Submitted genomic | NC_000007.13:g.(?_ 118131680)_(118161 963_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 118,131,680 | 118,161,963 | ||
nssv15617403 | Submitted genomic | NC_000007.13:g.(?_ 118131680)_(118161 963_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 118,131,680 | 118,161,963 | ||
nssv15641099 | Submitted genomic | NC_000007.13:g.(?_ 118131680)_(118161 963_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 118,131,680 | 118,161,963 | ||
nssv15641851 | Submitted genomic | NC_000007.13:g.(?_ 118131680)_(118161 963_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 118,131,680 | 118,161,963 | ||
nssv15642173 | Submitted genomic | NC_000007.13:g.(?_ 118131680)_(118161 963_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 118,131,680 | 118,161,963 | ||
nssv15644760 | Submitted genomic | NC_000007.13:g.(?_ 118131680)_(118161 963_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 118,131,680 | 118,161,963 |