nsv3906711
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:853,790
- Description:GRCh37/hg19 17q22(chr17:55916829-56770618)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: 2204 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2204 SVs from 87 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3906711 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 57,839,468 | 58,693,257 |
nsv3906711 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 55,916,829 | 56,770,618 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15149113 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000239996.1, VCV000253345.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15149113 | Remapped | Perfect | NC_000017.11:g.(?_ 57839468)_(5869325 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 57,839,468 | 58,693,257 |
nssv15149113 | Submitted genomic | NC_000017.10:g.(?_ 55916829)_(5677061 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 55,916,829 | 56,770,618 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15149113 | GRCh37: NC_000017.10:g.(?_55916829)_(56770618_?)del | copy number loss | unknown | See cases | Likely pathogenic | ClinVar | RCV000239996.1, VCV000253345.1 | 1 |