nsv7093071
- 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:2,713
- Description:NC_000023.11:g.(154930804_?)_(?_154933516)del AND Hereditary factor VIII deficiency disease
- Publication(s):Collins et al. 2012, Keeney et al. 2011, Konkle et al. 2000, Krepelová et al. 1992, Youssoufian et al. 1987
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 85 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 43 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7093071 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,930,804 | 154,933,516 | ||
| nsv7093071 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 154,159,079 | 154,161,791 |
| nsv7093071 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,364,783 | 2,367,495 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786263 | deletion | Multiple | Multiple | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Pathogenic | ClinVar | RCV000010802.2, VCV000010090.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786263 | Submitted genomic | NC_000023.11:g.(15 4930804_?)_(?_1549 33516)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,930,804 | 154,933,516 | ||
| nssv18786263 | Remapped | Perfect | NW_003871103.3:g.( 2364783_?)_(?_2367 495)del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,364,783 | 2,367,495 |
| nssv18786263 | Remapped | Perfect | NC_000023.10:g.(15 4159079_?)_(?_1541 61791)del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 154,159,079 | 154,161,791 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786263 | GRCh38: NC_000023.11:g.(154930804_?)_(?_154933516)del | deletion | germline | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Pathogenic | ClinVar | RCV000010802.2, VCV000010090.1 |