nsv3905553
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,624,015
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6035 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 6036 SVs from 110 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3905553 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,650,843 | 75,274,857 |
nsv3905553 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,943,184 | 75,567,198 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15142430 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510609.2, VCV000443649.2 | 1 |
nssv16208428 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006709.2, VCV000815734.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15142430 | Remapped | Perfect | NC_000015.10:g.(?_ 72650843)_(7527485 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,650,843 | 75,274,857 |
nssv16208428 | Remapped | Perfect | NC_000015.10:g.(?_ 72650843)_(7527485 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,650,843 | 75,274,857 |
nssv15142430 | Submitted genomic | NC_000015.9:g.(?_7 2943184)_(75567198 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,943,184 | 75,567,198 | ||
nssv16208428 | Submitted genomic | NC_000015.9:g.(?_7 2943184)_(75567198 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,943,184 | 75,567,198 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15142430 | GRCh37: NC_000015.9:g.(?_72943184)_(75567198_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000510609.2, VCV000443649.2 | 1 |
nssv16208428 | GRCh37: NC_000015.9:g.(?_72943184)_(75567198_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006709.2, VCV000815734.2 | 1 |