nsv3908288
- 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:45,746,417
- Description:GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 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: 129513 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 129506 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 34982 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908288 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 236,816 | 45,983,232 |
| nsv3908288 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 236,816 | 46,210,371 |
| nsv3908288 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 226,816 | 46,063,875 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161375 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143682.8, VCV000155615.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161375 | Submitted genomic | NC_000002.12:g.(?_ 236816)_(45983232_ ?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 236,816 | 45,983,232 |
| nssv15161375 | Submitted genomic | NC_000002.11:g.(?_ 236816)_(46210371_ ?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 236,816 | 46,210,371 |
| nssv15161375 | Submitted genomic | NC_000002.10:g.(?_ 226816)_(46063875_ ?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 226,816 | 46,063,875 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161375 | GRCh37: NC_000002.11:g.(?_236816)_(46210371_?)dup, GRCh38: NC_000002.12:g.(?_236816)_(45983232_?)dup, NCBI36: NC_000002.10:g.(?_226816)_(46063875_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143682.8, VCV000155615.2 | 3 |