nsv4378962
- 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:48,541
- 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: 644 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 624 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4378962 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 135,620,673 | 135,669,213 |
| nsv4378962 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 134,754,598 | 134,802,928 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612232 | copy number gain | 1-0674-001 | SNP array | Genotyping | 25 |
| nssv15650414 | copy number gain | 2-1478-001 | SNP array | Genotyping | 16 |
| nssv15678248 | copy number gain | 244359S | SNP array | Genotyping | 24 |
| nssv15690513 | copy number gain | OCD145-HM-1349(188527) | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612232 | Remapped | Good | NC_000023.11:g.(?_ 135620673)_(135669 213_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,620,673 | 135,669,213 |
| nssv15650414 | Remapped | Good | NC_000023.11:g.(?_ 135620673)_(135669 213_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,620,673 | 135,669,213 |
| nssv15678248 | Remapped | Good | NC_000023.11:g.(?_ 135620673)_(135669 213_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,620,673 | 135,669,213 |
| nssv15690513 | Remapped | Good | NC_000023.11:g.(?_ 135620673)_(135669 213_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,620,673 | 135,669,213 |
| nssv15612232 | Submitted genomic | NC_000023.10:g.(?_ 134754598)_(134802 928_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,754,598 | 134,802,928 | ||
| nssv15650414 | Submitted genomic | NC_000023.10:g.(?_ 134754598)_(134802 928_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,754,598 | 134,802,928 | ||
| nssv15678248 | Submitted genomic | NC_000023.10:g.(?_ 134754598)_(134802 928_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,754,598 | 134,802,928 | ||
| nssv15690513 | Submitted genomic | NC_000023.10:g.(?_ 134754598)_(134802 928_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,754,598 | 134,802,928 |