nsv7137022
- 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:2
- Description:NM_000132.4(F8):c.1904-736_2113+2563dup AND Hereditary factor VIII deficiency disease
- Publication(s):Collins et al. 2012, Keeney et al. 2011, Konkle et al. 2000, Murru et al. 1990
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 86 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7137022 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,945,134 | 154,945,135 |
| nsv7137022 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 154,173,409 | 154,173,410 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830748 | duplication | Multiple | Multiple | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Pathogenic | ClinVar | RCV000010857.11, VCV000010144.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18830748 | Submitted genomic | NC_000023.11:g.154 945134_154945135du p | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,945,134 | 154,945,135 |
| nssv18830748 | Submitted genomic | NC_000023.10:g.154 173409_154173410du p | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,173,409 | 154,173,410 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830748 | GRCh37: NC_000023.10:g.154173409_154173410dup, GRCh38: NC_000023.11:g.154945134_154945135dup | duplication | germline | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Pathogenic | ClinVar | RCV000010857.11, VCV000010144.1 |