nsv7093216
- 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:59,086
- Description:NC_000023.11:g.(?_154931495)_(154989517_154990
580)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: 165 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 18 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv7093216 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,931,495 | 154,989,517 | 154,990,580 | ||
| nsv7093216 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 154,159,770 | 154,217,792 | 154,218,855 |
| nsv7093216 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,365,474 | 2,423,496 | 2,424,559 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786270 | deletion | Multiple | Multiple | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Pathogenic | ClinVar | RCV000011052.4, VCV000010339.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18786270 | Submitted genomic | NC_000023.11:g.(?_ 154931495)_(154989 517_154990580)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,931,495 | 154,989,517 | 154,990,580 | ||
| nssv18786270 | Remapped | Perfect | NW_003871103.3:g.( ?_2365474)_(242349 6_2424559)del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,365,474 | 2,423,496 | 2,424,559 |
| nssv18786270 | Remapped | Perfect | NC_000023.10:g.(?_ 154159770)_(154217 792_154218855)del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 154,159,770 | 154,217,792 | 154,218,855 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786270 | GRCh38: NC_000023.11:g.(?_154931495)_(154989517_154990580)del | deletion | germline | HEMOPHILIA A; HEMA; Hemophilia A; Hemophilia A; Hereditary factor VIII deficiency disease | Pathogenic | ClinVar | RCV000011052.4, VCV000010339.1 |