nsv3906763
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:334,129
- Description:GRCh38/hg38 2q32.3(chr2:193519778-193853906)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1232 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1232 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 363 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906763 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 193,519,778 | 193,853,906 |
| nsv3906763 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 194,384,503 | 194,718,630 |
| nsv3906763 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 194,092,748 | 194,426,875 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120943 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000134997.3, VCV000145671.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120943 | Submitted genomic | NC_000002.12:g.(?_ 193519778)_(193853 906_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 193,519,778 | 193,853,906 |
| nssv15120943 | Submitted genomic | NC_000002.11:g.(?_ 194384503)_(194718 630_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,384,503 | 194,718,630 |
| nssv15120943 | Submitted genomic | NC_000002.10:g.(?_ 194092748)_(194426 875_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,092,748 | 194,426,875 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120943 | GRCh37: NC_000002.11:g.(?_194384503)_(194718630_?)del, GRCh38: NC_000002.12:g.(?_193519778)_(193853906_?)del, NCBI36: NC_000002.10:g.(?_194092748)_(194426875_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000134997.3, VCV000145671.1 | 1 |