nsv4674164
- 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:366,820
- Description:GRCh37/hg19 Xq22.2(chrX:102742391-103109211)x2 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: 750 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 752 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674164 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 103,487,463 | 103,854,282 |
| nsv4674164 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 102,742,391 | 103,109,211 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207568 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007329.2, VCV000816375.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207568 | Remapped | Perfect | NC_000023.11:g.(?_ 103487463)_(103854 282_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 103,487,463 | 103,854,282 |
| nssv16207568 | Submitted genomic | NC_000023.10:g.(?_ 102742391)_(103109 211_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 102,742,391 | 103,109,211 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207568 | GRCh37: NC_000023.10:g.(?_102742391)_(103109211_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV001007329.2, VCV000816375.2 | 2 |