nsv3922052
- 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:16,902,608
- Description:GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)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: 49510 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 49500 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 13575 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922052 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 155,807 | 17,058,414 |
| nsv3922052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 155,807 | 17,058,645 |
| nsv3922052 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 100,807 | 17,166,624 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137715 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140307.7, VCV000151603.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137715 | Submitted genomic | NC_000006.12:g.(?_ 155807)_(17058414_ ?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 155,807 | 17,058,414 |
| nssv15137715 | Submitted genomic | NC_000006.11:g.(?_ 155807)_(17058645_ ?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 155,807 | 17,058,645 |
| nssv15137715 | Submitted genomic | NC_000006.10:g.(?_ 100807)_(17166624_ ?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 100,807 | 17,166,624 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137715 | GRCh37: NC_000006.11:g.(?_155807)_(17058645_?)dup, GRCh38: NC_000006.12:g.(?_155807)_(17058414_?)dup, NCBI36: NC_000006.10:g.(?_100807)_(17166624_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000140307.7, VCV000151603.3 | 3 |