nsv6620568
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,581,215
- 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: 7049 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 4008 SVs from 116 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6620568 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,157,935 | 47,739,149 |
nsv6620568 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 47,109,571 | 47,703,946 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18292268 | duplication | OSC3919 | SNP array | Probe signal intensity | nssv18291920, nssv18291680, nssv18292269 |
nssv18292988 | duplication | OSC4175 | SNP array | Probe signal intensity | 6 |
nssv18294016 | duplication | OSC0441 | SNP array | Probe signal intensity | 5 |
nssv18300862 | duplication | OSC5480 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18292268 | Remapped | Pass | NC_000010.11:g.(?_ 46157935)_(4773914 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,157,935 | 47,739,149 |
nssv18292988 | Remapped | Pass | NC_000010.11:g.(?_ 46157935)_(4773914 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,157,935 | 47,739,149 |
nssv18294016 | Remapped | Pass | NC_000010.11:g.(?_ 46157935)_(4773914 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,157,935 | 47,739,149 |
nssv18300862 | Remapped | Pass | NC_000010.11:g.(?_ 46157935)_(4773914 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,157,935 | 47,739,149 |
nssv18292268 | Submitted genomic | NC_000010.10:g.(?_ 47109571)_(4770394 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,109,571 | 47,703,946 | ||
nssv18292988 | Submitted genomic | NC_000010.10:g.(?_ 47109571)_(4770394 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,109,571 | 47,703,946 | ||
nssv18294016 | Submitted genomic | NC_000010.10:g.(?_ 47109571)_(4770394 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,109,571 | 47,703,946 | ||
nssv18300862 | Submitted genomic | NC_000010.10:g.(?_ 47109571)_(4770394 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,109,571 | 47,703,946 |