nsv3922594
- 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:2,984,042
- Description:GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)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: 7699 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 7699 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 1930 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922594 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 13,311,519 | 16,295,560 |
| nsv3922594 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 13,311,751 | 16,295,791 |
| nsv3922594 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 13,419,730 | 16,403,770 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133842 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136133.5, VCV000146907.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133842 | Submitted genomic | NC_000006.12:g.(?_ 13311519)_(1629556 0_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 13,311,519 | 16,295,560 |
| nssv15133842 | Submitted genomic | NC_000006.11:g.(?_ 13311751)_(1629579 1_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 13,311,751 | 16,295,791 |
| nssv15133842 | Submitted genomic | NC_000006.10:g.(?_ 13419730)_(1640377 0_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 13,419,730 | 16,403,770 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133842 | GRCh37: NC_000006.11:g.(?_13311751)_(16295791_?)dup, GRCh38: NC_000006.12:g.(?_13311519)_(16295560_?)dup, NCBI36: NC_000006.10:g.(?_13419730)_(16403770_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136133.5, VCV000146907.2 | 3 |