nsv3906312
- 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:143,875
- Description:GRCh38/hg38 2p16.3(chr2:50851255-50995129)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: 758 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 758 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 204 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906312 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 50,851,255 | 50,995,129 |
| nsv3906312 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 51,078,393 | 51,222,267 |
| nsv3906312 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 50,931,897 | 51,075,771 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120775 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054018.5, VCV000060144.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120775 | Submitted genomic | NC_000002.12:g.(?_ 50851255)_(5099512 9_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 50,851,255 | 50,995,129 |
| nssv15120775 | Submitted genomic | NC_000002.11:g.(?_ 51078393)_(5122226 7_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 51,078,393 | 51,222,267 |
| nssv15120775 | Submitted genomic | NC_000002.10:g.(?_ 50931897)_(5107577 1_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 50,931,897 | 51,075,771 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120775 | GRCh37: NC_000002.11:g.(?_51078393)_(51222267_?)del, GRCh38: NC_000002.12:g.(?_50851255)_(50995129_?)del, NCBI36: NC_000002.10:g.(?_50931897)_(51075771_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000054018.5, VCV000060144.1 | 1 |