nsv7093032
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:316
- Description:NC_000023.11:g.(?_155022409)_(155022724_?)del AND Hereditary factor VIII deficiency disease
- Publication(s):Antonarakis et al. 1995, Collins et al. 2012, Higuchi et al. 1991, Keeney et al. 2011, Konkle et al. 2000, Millar et al. 1990, Schwaab et al. 1993, Wehnert et al. 1989, Youssoufian et al. 1988
- ClinVar: RCV000010807.3
- ClinVar: VCV000010095.1
- GeneReviews: NBK1404
- MONDO: 0010602
- MedGen: C0019069
- OMIM: 300841.0011
- OMIM: 306700
- Orphanet: 98878
- PubMed: 1908096
- PubMed: 20301578
- PubMed: 2125022
- PubMed: 21654722
- PubMed: 23157203
- PubMed: 2567219
- PubMed: 2833855
- PubMed: 7728145
- PubMed: 8485051
- Overlapping Genes
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: 100 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 55 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7093032 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 155,022,409 | 155,022,724 | ||
| nsv7093032 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 154,250,684 | 154,250,999 |
| nsv7093032 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,456,388 | 2,456,703 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786264 | deletion | Multiple | Multiple | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Pathogenic | ClinVar | RCV000010807.3, VCV000010095.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786264 | Submitted genomic | NC_000023.11:g.(?_ 155022409)_(155022 724_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 155,022,409 | 155,022,724 | ||
| nssv18786264 | Remapped | Perfect | NW_003871103.3:g.( ?_2456388)_(245670 3_?)del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,456,388 | 2,456,703 |
| nssv18786264 | Remapped | Perfect | NC_000023.10:g.(?_ 154250684)_(154250 999_?)del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 154,250,684 | 154,250,999 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786264 | GRCh38: NC_000023.11:g.(?_155022409)_(155022724_?)del | deletion | germline | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Pathogenic | ClinVar | RCV000010807.3, VCV000010095.1 |