nsv4675916
- 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:228,873
- Description:GRCh37/hg19 6q25.3(chr6:158595235-158824107)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: 944 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 944 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675916 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 158,174,203 | 158,403,075 |
| nsv4675916 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 158,595,235 | 158,824,107 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206845 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005865.1, VCV000814888.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206845 | Remapped | Perfect | NC_000006.12:g.(?_ 158174203)_(158403 075_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 158,174,203 | 158,403,075 |
| nssv16206845 | Submitted genomic | NC_000006.11:g.(?_ 158595235)_(158824 107_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 158,595,235 | 158,824,107 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206845 | GRCh37: NC_000006.11:g.(?_158595235)_(158824107_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005865.1, VCV000814888.1 | 3 |