nsv3892726
- 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:5,735,615
- Description:GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)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: 13860 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 13860 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 3316 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3892726 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 56,738,054 | 62,473,668 |
| nsv3892726 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 56,965,189 | 62,700,803 |
| nsv3892726 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 56,818,693 | 62,554,307 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133238 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054020.5, VCV000060146.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133238 | Submitted genomic | NC_000002.12:g.(?_ 56738054)_(6247366 8_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 56,738,054 | 62,473,668 |
| nssv15133238 | Submitted genomic | NC_000002.11:g.(?_ 56965189)_(6270080 3_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,965,189 | 62,700,803 |
| nssv15133238 | Submitted genomic | NC_000002.10:g.(?_ 56818693)_(6255430 7_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 56,818,693 | 62,554,307 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133238 | GRCh37: NC_000002.11:g.(?_56965189)_(62700803_?)del, GRCh38: NC_000002.12:g.(?_56738054)_(62473668_?)del, NCBI36: NC_000002.10:g.(?_56818693)_(62554307_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000054020.5, VCV000060146.1 | 1 |