nsv3904002
- 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:7,037,680
- Description:GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)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: 26265 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 26217 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 6486 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3904002 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 235,028,429 | 242,066,108 |
| nsv3904002 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 235,937,073 | 243,008,259 |
| nsv3904002 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 235,601,812 | 242,656,932 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122404 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136968.4, VCV000147844.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122404 | Submitted genomic | NC_000002.12:g.(?_ 235028429)_(242066 108_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 235,028,429 | 242,066,108 |
| nssv15122404 | Submitted genomic | NC_000002.11:g.(?_ 235937073)_(243008 259_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 235,937,073 | 243,008,259 |
| nssv15122404 | Submitted genomic | NC_000002.10:g.(?_ 235601812)_(242656 932_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 235,601,812 | 242,656,932 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122404 | GRCh37: NC_000002.11:g.(?_235937073)_(243008259_?)del, GRCh38: NC_000002.12:g.(?_235028429)_(242066108_?)del, NCBI36: NC_000002.10:g.(?_235601812)_(242656932_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000136968.4, VCV000147844.1 | 1 |