nsv3903805
- 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:80,210,777
- Description:GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)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: 205709 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 205730 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 54395 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 |
|---|---|---|---|---|---|---|---|
| nsv3903805 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 7,495,123 | 87,705,899 |
| nsv3903805 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 7,635,254 | 88,005,418 |
| nsv3903805 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 7,552,705 | 87,786,533 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161562 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000141494.8, VCV000152995.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161562 | Submitted genomic | NC_000002.12:g.(?_ 7495123)_(87705899 _?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 7,495,123 | 87,705,899 |
| nssv15161562 | Submitted genomic | NC_000002.11:g.(?_ 7635254)_(88005418 _?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 7,635,254 | 88,005,418 |
| nssv15161562 | Submitted genomic | NC_000002.10:g.(?_ 7552705)_(87786533 _?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 7,552,705 | 87,786,533 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161562 | GRCh37: NC_000002.11:g.(?_7635254)_(88005418_?)dup, GRCh38: NC_000002.12:g.(?_7495123)_(87705899_?)dup, NCBI36: NC_000002.10:g.(?_7552705)_(87786533_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000141494.8, VCV000152995.2 | 3 |