nsv4675047
- 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:472,901
- Description:GRCh37/hg19 8q11.23(chr8:53383339-53856239)x3 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: 1564 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1564 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675047 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 52,470,779 | 52,943,679 |
| nsv4675047 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 53,383,339 | 53,856,239 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206957 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006105.1, VCV000815128.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206957 | Remapped | Perfect | NC_000008.11:g.(?_ 52470779)_(5294367 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 52,470,779 | 52,943,679 |
| nssv16206957 | Submitted genomic | NC_000008.10:g.(?_ 53383339)_(5385623 9_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 53,383,339 | 53,856,239 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206957 | GRCh37: NC_000008.10:g.(?_53383339)_(53856239_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006105.1, VCV000815128.1 | 3 |