nsv3895979
- 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:4,001,629
- Description:GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)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: 8249 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 8249 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 2031 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3895979 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 102,084,275 | 106,085,903 |
| nsv3895979 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 102,700,735 | 106,702,359 |
| nsv3895979 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 102,067,167 | 106,068,791 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132848 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000134974.7, VCV000145646.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132848 | Submitted genomic | NC_000002.12:g.(?_ 102084275)_(106085 903_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 102,084,275 | 106,085,903 |
| nssv15132848 | Submitted genomic | NC_000002.11:g.(?_ 102700735)_(106702 359_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 102,700,735 | 106,702,359 |
| nssv15132848 | Submitted genomic | NC_000002.10:g.(?_ 102067167)_(106068 791_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 102,067,167 | 106,068,791 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132848 | GRCh37: NC_000002.11:g.(?_102700735)_(106702359_?)del, GRCh38: NC_000002.12:g.(?_102084275)_(106085903_?)del, NCBI36: NC_000002.10:g.(?_102067167)_(106068791_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000134974.7, VCV000145646.2 | 1 |