nsv4370275
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:42,671
- 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: 427 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 73 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4370275 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 85,985,540 | 86,028,210 |
nsv4370275 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 86,451,884 | 86,494,554 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15627237 | copy number loss | 1-0479-007 | SNP array | Genotyping | 21 |
nssv15653612 | copy number loss | 2-1605-002 | SNP array | Genotyping | 25 |
nssv15654614 | copy number loss | 2-1747-003 | SNP array | Genotyping | 20 |
nssv15663054 | copy number loss | 4-0049-003 | SNP array | Genotyping | 22 |
nssv15700862 | copy number loss | 217142 | SNP array | Genotyping | 27 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15627237 | Remapped | Perfect | NC_000014.9:g.(?_8 5985540)_(86028210 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 85,985,540 | 86,028,210 |
nssv15653612 | Remapped | Perfect | NC_000014.9:g.(?_8 5985540)_(86028210 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 85,985,540 | 86,028,210 |
nssv15654614 | Remapped | Perfect | NC_000014.9:g.(?_8 5985540)_(86028210 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 85,985,540 | 86,028,210 |
nssv15663054 | Remapped | Perfect | NC_000014.9:g.(?_8 5985540)_(86028210 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 85,985,540 | 86,028,210 |
nssv15700862 | Remapped | Perfect | NC_000014.9:g.(?_8 5985540)_(86028210 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 85,985,540 | 86,028,210 |
nssv15627237 | Submitted genomic | NC_000014.8:g.(?_8 6451884)_(86494554 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 86,451,884 | 86,494,554 | ||
nssv15653612 | Submitted genomic | NC_000014.8:g.(?_8 6451884)_(86494554 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 86,451,884 | 86,494,554 | ||
nssv15654614 | Submitted genomic | NC_000014.8:g.(?_8 6451884)_(86494554 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 86,451,884 | 86,494,554 | ||
nssv15663054 | Submitted genomic | NC_000014.8:g.(?_8 6451884)_(86494554 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 86,451,884 | 86,494,554 | ||
nssv15700862 | Submitted genomic | NC_000014.8:g.(?_8 6451884)_(86494554 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 86,451,884 | 86,494,554 |