nsv3895332
- 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:10,038,702
- Description:GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)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: 24374 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 24377 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 6308 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3895332 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 199,946,494 | 209,985,195 |
| nsv3895332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 200,811,217 | 210,849,919 |
| nsv3895332 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 200,519,462 | 210,558,164 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148911 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141076.4, VCV000152538.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148911 | Submitted genomic | NC_000002.12:g.(?_ 199946494)_(209985 195_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 199,946,494 | 209,985,195 |
| nssv15148911 | Submitted genomic | NC_000002.11:g.(?_ 200811217)_(210849 919_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 200,811,217 | 210,849,919 |
| nssv15148911 | Submitted genomic | NC_000002.10:g.(?_ 200519462)_(210558 164_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 200,519,462 | 210,558,164 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148911 | GRCh37: NC_000002.11:g.(?_200811217)_(210849919_?)del, GRCh38: NC_000002.12:g.(?_199946494)_(209985195_?)del, NCBI36: NC_000002.10:g.(?_200519462)_(210558164_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141076.4, VCV000152538.1 | 1 |