nsv4676096
- 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:486,651
- Description:GRCh37/hg19 8q22.2(chr8:100791383-101278033)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: 1186 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 1186 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676096 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 99,779,155 | 100,265,805 |
| nsv4676096 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 100,791,383 | 101,278,033 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206969 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006126.1, VCV000815149.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206969 | Remapped | Perfect | NC_000008.11:g.(?_ 99779155)_(1002658 05_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,779,155 | 100,265,805 |
| nssv16206969 | Submitted genomic | NC_000008.10:g.(?_ 100791383)_(101278 033_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 100,791,383 | 101,278,033 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206969 | GRCh37: NC_000008.10:g.(?_100791383)_(101278033_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006126.1, VCV000815149.1 | 3 |