nsv3881674
- 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:31,318
- Description:NC_000023.11:g.(?_139530759)_(139562076_?)del AND multiple conditions
- Publication(s):Collins et al. 2012, Jenkins et al. 2012, Konkle et al. 2000
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 150 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3881674 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 139,530,759 | 139,562,076 |
| nsv3881674 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 138,612,918 | 138,644,235 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15129420 | deletion | Multiple | Multiple | HEMOPHILIA B; HEMB; Hemophilia B; Hemophilia B; Hemophilia B; Hereditary factor IX deficiency disease; THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8; Thrombophilia, X-linked, due to factor IX defect | Pathogenic | ClinVar | RCV000646762.1, VCV000537740.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15129420 | Submitted genomic | NC_000023.11:g.(?_ 139530759)_(139562 076_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,530,759 | 139,562,076 |
| nssv15129420 | Submitted genomic | NC_000023.10:g.(?_ 138612918)_(138644 235_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 138,612,918 | 138,644,235 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15129420 | GRCh37: NC_000023.10:g.(?_138612918)_(138644235_?)del, GRCh38: NC_000023.11:g.(?_139530759)_(139562076_?)del | deletion | germline | HEMOPHILIA B; HEMB; Hemophilia B; Hemophilia B; Hemophilia B; Hereditary factor IX deficiency disease; THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8; Thrombophilia, X-linked, due to factor IX defect | Pathogenic | ClinVar | RCV000646762.1, VCV000537740.1 |