nsv4367247
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,922
- 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: 857 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 857 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4367247 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nsv4367247 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15613294 | copy number loss | 1-0121-002 | SNP array | Genotyping | 26 |
| nssv15616623 | copy number loss | 1-0863-003 | SNP array | Genotyping | 18 |
| nssv15634135 | copy number loss | 11-0027-003 | SNP array | Genotyping | 17 |
| nssv15637563 | copy number gain | 14-0124-004 | SNP array | Genotyping | 20 |
| nssv15638899 | copy number loss | 14-0036-003 | SNP array | Genotyping | 18 |
| nssv15639183 | copy number loss | 14-0277-001 | SNP array | Genotyping | 26 |
| nssv15640404 | copy number loss | 14-0152-004 | SNP array | Genotyping | 19 |
| nssv15642425 | copy number loss | 15-1119-001 | SNP array | Genotyping | 26 |
| nssv15654018 | copy number loss | 2-1688-003 | SNP array | Genotyping | 14 |
| nssv15666616 | copy number loss | 7-0125-003 | SNP array | Genotyping | 25 |
| nssv15673248 | copy number loss | 9-0036-003 | SNP array | Genotyping | 24 |
| nssv15683358 | copy number gain | OCD106-1608 | SNP array | Genotyping | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15613294 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15616623 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15634135 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15637563 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15638899 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15639183 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15640404 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15642425 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15654018 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15666616 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15673248 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15683358 | Remapped | Perfect | NC_000014.9:g.(?_7 3534418)_(73557339 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,418 | 73,557,339 |
| nssv15613294 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15616623 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15634135 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15637563 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15638899 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15639183 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15640404 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15642425 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15654018 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15666616 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15673248 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 | ||
| nssv15683358 | Submitted genomic | NC_000014.8:g.(?_7 4001122)_(74024043 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,122 | 74,024,043 |