nsv5673836
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,904
- Description:NM_000132.4(F8):c.2114-6760_2257del AND Hereditary factor VIII deficiency disease
- Publication(s):Collins et al. 2012, Keeney et al. 2011, Konkle et al. 2000, Turro et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 91 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5673836 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,931,533 | 154,938,436 |
| nsv5673836 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 154,159,808 | 154,166,711 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214769 | deletion | Multiple | Multiple | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Likely pathogenic | ClinVar | RCV001003854.1, VCV000812920.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16214769 | Submitted genomic | NC_000023.11:g.154 931533_154938436de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,931,533 | 154,938,436 |
| nssv16214769 | Submitted genomic | NC_000023.10:g.154 159808_154166711de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,159,808 | 154,166,711 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214769 | GRCh37: NC_000023.10:g.154159808_154166711del, GRCh38: NC_000023.11:g.154931533_154938436del | deletion | unknown | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Likely pathogenic | ClinVar | RCV001003854.1, VCV000812920.1 |