nsv7093564
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:insertion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:NM_000133.4(F9):c.423_424insAGGCCGGGCGCGGTGGCT
CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNN
NNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGATGC (p.Glu142fs) 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: 106 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093564 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 139,548,379 | 139,548,379 |
| nsv7093564 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 138,630,538 | 138,630,538 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786092 | insertion | 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 | RCV002842844.1, VCV002010000.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786092 | Submitted genomic | NC_000023.11:g.139 548379_139548380in s116 | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,548,379 | 139,548,379 |
| nssv18786092 | Submitted genomic | NC_000023.10:g.138 630538_138630539in s116 | GRCh37 (hg19) | NC_000023.10 | ChrX | 138,630,538 | 138,630,538 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786092 | GRCh37: NC_000023.10:g.138630538_138630539ins116, GRCh38: NC_000023.11:g.139548379_139548380ins116 | insertion | 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 | RCV002842844.1, VCV002010000.1 |