nsv4382551
- 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:48,971
- 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: 744 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 744 SVs from 89 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4382551 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,640,646 |
nsv4382551 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 19,494,989 | 19,543,959 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15615094 | copy number loss | 1-0747-003 | SNP array | Genotyping | 19 |
nssv15623743 | copy number loss | 1-0236-004 | SNP array | Genotyping | 25 |
nssv15684781 | copy number loss | OCD155-dt-1239(190116) | SNP array | Genotyping | 16 |
nssv15686144 | copy number loss | OCD2-B_LK-1286 | SNP array | Genotyping | 18 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15615094 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1964064 6_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,640,646 |
nssv15623743 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1964064 6_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,640,646 |
nssv15684781 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1964064 6_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,640,646 |
nssv15686144 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1964064 6_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,640,646 |
nssv15615094 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954395 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,959 | ||
nssv15623743 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954395 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,959 | ||
nssv15684781 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954395 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,959 | ||
nssv15686144 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954395 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,959 |