nsv4387260
- 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:79,140
- 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: 2619 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 2619 SVs from 101 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4387260 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,252,864 | 78,332,003 |
nsv4387260 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,962,581 | 79,041,720 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15644573 | copy number loss | 15-1127-002 | SNP array | Genotyping | 17 |
nssv15649149 | copy number loss | 2-1258-001 | SNP array | Genotyping | 27 |
nssv15671018 | copy number loss | 7-0297-003 | SNP array | Genotyping | 24 |
nssv15680680 | copy number loss | 215270 | SNP array | Genotyping | 21 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15644573 | Remapped | Perfect | NC_000006.12:g.(?_ 78252864)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,864 | 78,332,003 |
nssv15649149 | Remapped | Perfect | NC_000006.12:g.(?_ 78252864)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,864 | 78,332,003 |
nssv15671018 | Remapped | Perfect | NC_000006.12:g.(?_ 78252864)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,864 | 78,332,003 |
nssv15680680 | Remapped | Perfect | NC_000006.12:g.(?_ 78252864)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,864 | 78,332,003 |
nssv15644573 | Submitted genomic | NC_000006.11:g.(?_ 78962581)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,581 | 79,041,720 | ||
nssv15649149 | Submitted genomic | NC_000006.11:g.(?_ 78962581)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,581 | 79,041,720 | ||
nssv15671018 | Submitted genomic | NC_000006.11:g.(?_ 78962581)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,581 | 79,041,720 | ||
nssv15680680 | Submitted genomic | NC_000006.11:g.(?_ 78962581)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,581 | 79,041,720 |