nsv4365094
- 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:28,979
- 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: 393 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 388 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4365094 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 75,717,613 | 75,746,591 |
| nsv4365094 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 75,346,931 | 75,375,909 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15625890 | copy number gain | 1-0414-006 | SNP array | Genotyping | 22 |
| nssv15656323 | copy number gain | 4-0026-003 | SNP array | Genotyping | 22 |
| nssv15659800 | copy number gain | 4-0073-002 | SNP array | Genotyping | 24 |
| nssv15701743 | copy number gain | 81685 | SNP array | Genotyping | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15625890 | Remapped | Perfect | NC_000007.14:g.(?_ 75717613)_(7574659 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,717,613 | 75,746,591 |
| nssv15656323 | Remapped | Perfect | NC_000007.14:g.(?_ 75717613)_(7574659 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,717,613 | 75,746,591 |
| nssv15659800 | Remapped | Perfect | NC_000007.14:g.(?_ 75717613)_(7574659 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,717,613 | 75,746,591 |
| nssv15701743 | Remapped | Perfect | NC_000007.14:g.(?_ 75717613)_(7574659 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,717,613 | 75,746,591 |
| nssv15625890 | Submitted genomic | NC_000007.13:g.(?_ 75346931)_(7537590 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 75,346,931 | 75,375,909 | ||
| nssv15656323 | Submitted genomic | NC_000007.13:g.(?_ 75346931)_(7537590 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 75,346,931 | 75,375,909 | ||
| nssv15659800 | Submitted genomic | NC_000007.13:g.(?_ 75346931)_(7537590 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 75,346,931 | 75,375,909 | ||
| nssv15701743 | Submitted genomic | NC_000007.13:g.(?_ 75346931)_(7537590 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 75,346,931 | 75,375,909 |