nsv7095856
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,065,753
- Description:NC_000002.11:g.(?_135809878)_(136875630_?)del AND Warts, hypogammaglobulinemia, infections, and myelokathexis
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2224 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2224 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095856 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 135,052,308 | 136,118,060 |
| nsv7095856 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 135,809,878 | 136,875,630 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789617 | deletion | Multiple | Multiple | WHIM syndrome; Warts, hypogammaglobulinemia, infections, and myelokathexis | Uncertain significance | ClinVar | RCV003113261.2, VCV002424679.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789617 | Remapped | Perfect | NC_000002.12:g.(?_ 135052308)_(136118 060_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 135,052,308 | 136,118,060 |
| nssv18789617 | Submitted genomic | NC_000002.11:g.(?_ 135809878)_(136875 630_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 135,809,878 | 136,875,630 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789617 | GRCh37: NC_000002.11:g.(?_135809878)_(136875630_?)del | deletion | germline | WHIM syndrome; Warts, hypogammaglobulinemia, infections, and myelokathexis | Uncertain significance | ClinVar | RCV003113261.2, VCV002424679.3 |