nsv6636339
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:238,289
- Description:GRCh37/hg19 Xq21.1(chrX:77263244-77501532)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 373 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 374 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636339 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 78,007,747 | 78,246,035 |
| nsv6636339 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 77,263,244 | 77,501,532 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329505 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472439.1, VCV001807633.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329505 | Remapped | Perfect | NC_000023.11:g.(?_ 78007747)_(7824603 5_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 78,007,747 | 78,246,035 |
| nssv18329505 | Submitted genomic | NC_000023.10:g.(?_ 77263244)_(7750153 2_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 77,263,244 | 77,501,532 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329505 | GRCh37: NC_000023.10:g.(?_77263244)_(77501532_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472439.1, VCV001807633.1 | 3 |