nsv4455719
- 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:14,149,166
- Description:GRCh37/hg19 8p23.3-22(chr8:158048-14214722)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: 62679 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 62326 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455719 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 208,048 | 14,357,213 |
| nsv4455719 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 158,048 | 14,214,722 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775686 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847768.2, VCV000687060.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775686 | Remapped | Good | NC_000008.11:g.(?_ 208048)_(14357213_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 208,048 | 14,357,213 |
| nssv15775686 | Submitted genomic | NC_000008.10:g.(?_ 158048)_(14214722_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 158,048 | 14,214,722 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775686 | GRCh37: NC_000008.10:g.(?_158048)_(14214722_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000847768.2, VCV000687060.2 | 1 |