nsv3904317
- 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:4,949,267
- Description:GRCh38/hg38 2p16.1(chr2:55570578-60519844)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: 11791 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 11791 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 2885 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3904317 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 55,570,578 | 60,519,844 |
| nsv3904317 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 55,797,714 | 60,746,979 |
| nsv3904317 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 55,651,218 | 60,600,483 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136332 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137092.5, VCV000147996.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136332 | Submitted genomic | NC_000002.12:g.(?_ 55570578)_(6051984 4_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 55,570,578 | 60,519,844 |
| nssv15136332 | Submitted genomic | NC_000002.11:g.(?_ 55797714)_(6074697 9_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 55,797,714 | 60,746,979 |
| nssv15136332 | Submitted genomic | NC_000002.10:g.(?_ 55651218)_(6060048 3_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 55,651,218 | 60,600,483 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136332 | GRCh37: NC_000002.11:g.(?_55797714)_(60746979_?)del, GRCh38: NC_000002.12:g.(?_55570578)_(60519844_?)del, NCBI36: NC_000002.10:g.(?_55651218)_(60600483_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000137092.5, VCV000147996.3 | 1 |