nsv3898403
- 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:801
- Description:GRCh37/hg19 8q24.3(chr8:145756613-145757413)x0 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: 268 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 55 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3898403 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,531,229 | 144,532,029 |
nsv3898403 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 145,756,613 | 145,757,413 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15168481 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000748042.2, VCV000611406.2 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15168481 | Remapped | Perfect | NC_000008.11:g.(?_ 144531229)_(144532 029_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,531,229 | 144,532,029 |
nssv15168481 | Submitted genomic | NC_000008.10:g.(?_ 145756613)_(145757 413_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,756,613 | 145,757,413 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15168481 | GRCh37: NC_000008.10:g.(?_145756613)_(145757413_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000748042.2, VCV000611406.2 | 0 |