nsv4675900
- 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:587,432
- Description:GRCh37/hg19 8q22.1(chr8:94810526-95397957)x4 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: 1542 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1542 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 93,798,298 | 94,385,729 |
| nsv4675900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 94,810,526 | 95,397,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206967 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006121.1, VCV000815144.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206967 | Remapped | Perfect | NC_000008.11:g.(?_ 93798298)_(9438572 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 93,798,298 | 94,385,729 |
| nssv16206967 | Submitted genomic | NC_000008.10:g.(?_ 94810526)_(9539795 7_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 94,810,526 | 95,397,957 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206967 | GRCh37: NC_000008.10:g.(?_94810526)_(95397957_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006121.1, VCV000815144.1 | 4 |