nsv6620374
- 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:122,276
- 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: 506 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 506 SVs from 72 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6620374 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 44,741,760 | 44,864,035 |
nsv6620374 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 45,237,208 | 45,359,483 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18282700 | duplication | OSC2142 | SNP array | Probe signal intensity | 5 |
nssv18287519 | duplication | OSC2947 | SNP array | Probe signal intensity | 6 |
nssv18287869 | duplication | OSC3170 | SNP array | Probe signal intensity | 12 |
nssv18296041 | duplication | OSC4661 | SNP array | Probe signal intensity | nssv18295724, nssv18296389 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18282700 | Remapped | Perfect | NC_000010.11:g.(?_ 44741760)_(4486403 5_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 44,741,760 | 44,864,035 |
nssv18287519 | Remapped | Perfect | NC_000010.11:g.(?_ 44741760)_(4486403 5_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 44,741,760 | 44,864,035 |
nssv18287869 | Remapped | Perfect | NC_000010.11:g.(?_ 44741760)_(4486403 5_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 44,741,760 | 44,864,035 |
nssv18296041 | Remapped | Perfect | NC_000010.11:g.(?_ 44741760)_(4486403 5_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 44,741,760 | 44,864,035 |
nssv18282700 | Submitted genomic | NC_000010.10:g.(?_ 45237208)_(4535948 3_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 45,237,208 | 45,359,483 | ||
nssv18287519 | Submitted genomic | NC_000010.10:g.(?_ 45237208)_(4535948 3_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 45,237,208 | 45,359,483 | ||
nssv18287869 | Submitted genomic | NC_000010.10:g.(?_ 45237208)_(4535948 3_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 45,237,208 | 45,359,483 | ||
nssv18296041 | Submitted genomic | NC_000010.10:g.(?_ 45237208)_(4535948 3_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 45,237,208 | 45,359,483 |