nsv4451614
- 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:373,897
- Description:GRCh37/hg19 2q24.1(chr2:156976385-157350281)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: 887 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 887 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451614 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 156,119,873 | 156,493,769 |
| nsv4451614 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 156,976,385 | 157,350,281 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773021 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848812.2, VCV000688121.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773021 | Remapped | Perfect | NC_000002.12:g.(?_ 156119873)_(156493 769_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 156,119,873 | 156,493,769 |
| nssv15773021 | Submitted genomic | NC_000002.11:g.(?_ 156976385)_(157350 281_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 156,976,385 | 157,350,281 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773021 | GRCh37: NC_000002.11:g.(?_156976385)_(157350281_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000848812.2, VCV000688121.2 | 1 |