nsv7093063
- 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:53,172
- Description:NC_000023.11:g.(154969553_154984686)_(15502272
4_?)del AND Hereditary factor VIII deficiency disease - Publication(s):Collins et al. 2012, Keeney et al. 2011, Konkle et al. 2000, Millar 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: 168 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv7093063 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,969,553 | 154,984,686 | 155,022,724 | ||
| nsv7093063 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 154,197,828 | 154,212,961 | 154,250,999 |
| nsv7093063 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,403,532 | 2,418,665 | 2,456,703 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786268 | deletion | Multiple | Multiple | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Pathogenic | ClinVar | RCV000011048.4, VCV000010335.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18786268 | Submitted genomic | NC_000023.11:g.(15 4969553_154984686) _(155022724_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,969,553 | 154,984,686 | 155,022,724 | ||
| nssv18786268 | Remapped | Perfect | NW_003871103.3:g.( 2403532_2418665)_( 2456703_?)del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,403,532 | 2,418,665 | 2,456,703 |
| nssv18786268 | Remapped | Perfect | NC_000023.10:g.(15 4197828_154212961) _(154250999_?)del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 154,197,828 | 154,212,961 | 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 |
|---|---|---|---|---|---|---|---|
| nssv18786268 | GRCh38: NC_000023.11:g.(154969553_154984686)_(155022724_?)del | deletion | germline | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Pathogenic | ClinVar | RCV000011048.4, VCV000010335.1 |