nsv4729879
- 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:50,660
- Description:GRCh37/hg19 22q13.1(chr22:40723778-40774437)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 173 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 40,327,774 | 40,378,433 |
| nsv4729879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 40,723,778 | 40,774,437 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255036 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258782.1, VCV000979606.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255036 | Remapped | Perfect | NC_000022.11:g.(?_ 40327774)_(4037843 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,327,774 | 40,378,433 |
| nssv16255036 | Submitted genomic | NC_000022.10:g.(?_ 40723778)_(4077443 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 40,723,778 | 40,774,437 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255036 | GRCh37: NC_000022.10:g.(?_40723778)_(40774437_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001258782.1, VCV000979606.1 | 1 |