nsv4377438
- 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:29,195
- 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: 428 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 425 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377438 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 117,727,661 | 117,756,855 |
| nsv4377438 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 116,861,624 | 116,890,818 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619013 | copy number gain | 1-0912-001 | SNP array | Genotyping | 28 |
| nssv15619040 | copy number gain | 1-0912-003 | SNP array | Genotyping | 16 |
| nssv15619057 | copy number gain | 1-0912-004 | SNP array | Genotyping | 15 |
| nssv15685066 | copy number gain | OCD158-KA-1464(188576) | SNP array | Genotyping | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619013 | Remapped | Perfect | NC_000023.11:g.(?_ 117727661)_(117756 855_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,727,661 | 117,756,855 |
| nssv15619040 | Remapped | Perfect | NC_000023.11:g.(?_ 117727661)_(117756 855_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,727,661 | 117,756,855 |
| nssv15619057 | Remapped | Perfect | NC_000023.11:g.(?_ 117727661)_(117756 855_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,727,661 | 117,756,855 |
| nssv15685066 | Remapped | Perfect | NC_000023.11:g.(?_ 117727661)_(117756 855_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,727,661 | 117,756,855 |
| nssv15619013 | Submitted genomic | NC_000023.10:g.(?_ 116861624)_(116890 818_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,861,624 | 116,890,818 | ||
| nssv15619040 | Submitted genomic | NC_000023.10:g.(?_ 116861624)_(116890 818_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,861,624 | 116,890,818 | ||
| nssv15619057 | Submitted genomic | NC_000023.10:g.(?_ 116861624)_(116890 818_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,861,624 | 116,890,818 | ||
| nssv15685066 | Submitted genomic | NC_000023.10:g.(?_ 116861624)_(116890 818_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,861,624 | 116,890,818 |