nsv4674320
- 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:1,863,389
- Description:GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)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: 4557 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 4554 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674320 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 107,883,353 | 109,746,741 |
| nsv4674320 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 108,499,809 | 110,504,318 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207824 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001005304.2, VCV000814292.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207824 | Remapped | Pass | NC_000002.12:g.(?_ 107883353)_(109746 741_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 107,883,353 | 109,746,741 |
| nssv16207824 | Submitted genomic | NC_000002.11:g.(?_ 108499809)_(110504 318_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 108,499,809 | 110,504,318 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207824 | GRCh37: NC_000002.11:g.(?_108499809)_(110504318_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001005304.2, VCV000814292.2 | 1 |