nsv4458038
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:71,130
- Description:
Single allele AND Hereditary factor IX deficiency disease - Publication(s):Collins et al. 2012, Downes et al. 2019, 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: 170 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4458038 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 154,928,521 | 154,999,650 |
| nsv4458038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 154,156,796 | 154,227,925 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15776868 | complex substitution | Multiple | Multiple | HEMOPHILIA B; HEMB; Hemophilia B; Hemophilia B; Hemophilia B; Hereditary factor IX deficiency disease | Likely pathogenic | ClinVar | RCV000852264.1, VCV000627503.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv15776868 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 154,928,521 | 154,999,650 |
| nssv15776868 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,156,796 | 154,227,925 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| nssv15776868 | complex substitution | unknown | HEMOPHILIA B; HEMB; Hemophilia B; Hemophilia B; Hemophilia B; Hereditary factor IX deficiency disease | Likely pathogenic | ClinVar | RCV000852264.1, VCV000627503.1 |