nsv6632045
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:69,398
- 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: 737 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 737 SVs from 79 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6632045 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 157,941,622 | 158,011,019 |
nsv6632045 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 157,734,314 | 157,803,711 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283001 | duplication | OSC2362 | SNP array | Probe signal intensity | 5 |
nssv18290515 | duplication | OSC3746 | SNP array | Probe signal intensity | 9 |
nssv18293055 | duplication | OSC4073 | SNP array | Probe signal intensity | 8 |
nssv18293449 | duplication | OSC4093 | SNP array | Probe signal intensity | 6 |
nssv18296336 | duplication | OSC4622 | SNP array | Probe signal intensity | 6 |
nssv18299330 | duplication | OSC0539 | SNP array | Probe signal intensity | 6 |
nssv18314110 | duplication | OSC0818 | SNP array | Probe signal intensity | 7 |
nssv18325699 | duplication | OSC1797 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18283001 | Remapped | Perfect | NC_000007.14:g.(?_ 157941622)_(158011 019_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,941,622 | 158,011,019 |
nssv18290515 | Remapped | Perfect | NC_000007.14:g.(?_ 157941622)_(158011 019_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,941,622 | 158,011,019 |
nssv18293055 | Remapped | Perfect | NC_000007.14:g.(?_ 157941622)_(158011 019_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,941,622 | 158,011,019 |
nssv18293449 | Remapped | Perfect | NC_000007.14:g.(?_ 157941622)_(158011 019_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,941,622 | 158,011,019 |
nssv18296336 | Remapped | Perfect | NC_000007.14:g.(?_ 157941622)_(158011 019_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,941,622 | 158,011,019 |
nssv18299330 | Remapped | Perfect | NC_000007.14:g.(?_ 157941622)_(158011 019_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,941,622 | 158,011,019 |
nssv18314110 | Remapped | Perfect | NC_000007.14:g.(?_ 157941622)_(158011 019_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,941,622 | 158,011,019 |
nssv18325699 | Remapped | Perfect | NC_000007.14:g.(?_ 157941622)_(158011 019_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,941,622 | 158,011,019 |
nssv18283001 | Submitted genomic | NC_000007.13:g.(?_ 157734314)_(157803 711_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 157,734,314 | 157,803,711 | ||
nssv18290515 | Submitted genomic | NC_000007.13:g.(?_ 157734314)_(157803 711_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 157,734,314 | 157,803,711 | ||
nssv18293055 | Submitted genomic | NC_000007.13:g.(?_ 157734314)_(157803 711_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 157,734,314 | 157,803,711 | ||
nssv18293449 | Submitted genomic | NC_000007.13:g.(?_ 157734314)_(157803 711_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 157,734,314 | 157,803,711 | ||
nssv18296336 | Submitted genomic | NC_000007.13:g.(?_ 157734314)_(157803 711_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 157,734,314 | 157,803,711 | ||
nssv18299330 | Submitted genomic | NC_000007.13:g.(?_ 157734314)_(157803 711_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 157,734,314 | 157,803,711 | ||
nssv18314110 | Submitted genomic | NC_000007.13:g.(?_ 157734314)_(157803 711_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 157,734,314 | 157,803,711 | ||
nssv18325699 | Submitted genomic | NC_000007.13:g.(?_ 157734314)_(157803 711_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 157,734,314 | 157,803,711 |