nsv3920975
- 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:28,206,582
- Description:GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)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: 81062 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 80843 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 20344 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920975 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 141,132,990 | 169,339,571 |
| nsv3920975 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 141,454,127 | 169,739,666 |
| nsv3920975 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 141,495,820 | 169,481,591 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145653 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050604.5, VCV000057020.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145653 | Submitted genomic | NC_000006.12:g.(?_ 141132990)_(169339 571_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 141,132,990 | 169,339,571 |
| nssv15145653 | Submitted genomic | NC_000006.11:g.(?_ 141454127)_(169739 666_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 141,454,127 | 169,739,666 |
| nssv15145653 | Submitted genomic | NC_000006.10:g.(?_ 141495820)_(169481 591_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 141,495,820 | 169,481,591 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145653 | GRCh37: NC_000006.11:g.(?_141454127)_(169739666_?)dup, GRCh38: NC_000006.12:g.(?_141132990)_(169339571_?)dup, NCBI36: NC_000006.10:g.(?_141495820)_(169481591_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050604.5, VCV000057020.1 | 3 |