nsv3915573
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,314,060
- Description:GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7262 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 7262 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 1960 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915573 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 158,585,724 | 160,899,783 |
| nsv3915573 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 159,006,756 | 161,320,815 |
| nsv3915573 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 158,926,744 | 161,240,805 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148255 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143618.5, VCV000155551.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148255 | Submitted genomic | NC_000006.12:g.(?_ 158585724)_(160899 783_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 158,585,724 | 160,899,783 |
| nssv15148255 | Submitted genomic | NC_000006.11:g.(?_ 159006756)_(161320 815_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 159,006,756 | 161,320,815 |
| nssv15148255 | Submitted genomic | NC_000006.10:g.(?_ 158926744)_(161240 805_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 158,926,744 | 161,240,805 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148255 | GRCh37: NC_000006.11:g.(?_159006756)_(161320815_?)dup, GRCh38: NC_000006.12:g.(?_158585724)_(160899783_?)dup, NCBI36: NC_000006.10:g.(?_158926744)_(161240805_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000143618.5, VCV000155551.2 | 3 |