nsv3897748
- 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:11,565
- Description:GRCh37/hg19 17q25.3(chr17:78157811-78169375)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 200 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 200 SVs from 46 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3897748 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 80,184,012 | 80,195,576 |
nsv3897748 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 78,157,811 | 78,169,375 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15173585 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000752221.2, VCV000615585.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15173585 | Remapped | Perfect | NC_000017.11:g.(?_ 80184012)_(8019557 6_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 80,184,012 | 80,195,576 |
nssv15173585 | Submitted genomic | NC_000017.10:g.(?_ 78157811)_(7816937 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 78,157,811 | 78,169,375 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15173585 | GRCh37: NC_000017.10:g.(?_78157811)_(78169375_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000752221.2, VCV000615585.2 | 1 |