nsv3921351
- 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:6,225,056
- Description:GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)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: 31531 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 31572 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 6923 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 |
|---|---|---|---|---|---|---|---|
| nsv3921351 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 45,130 | 6,270,185 |
| nsv3921351 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 45,130 | 6,309,816 |
| nsv3921351 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 140,213 | 6,276,341 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133212 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053527.6, VCV000059675.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133212 | Submitted genomic | NC_000007.14:g.(?_ 45130)_(6270185_?) dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 45,130 | 6,270,185 |
| nssv15133212 | Submitted genomic | NC_000007.13:g.(?_ 45130)_(6309816_?) dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 45,130 | 6,309,816 |
| nssv15133212 | Submitted genomic | NC_000007.12:g.(?_ 140213)_(6276341_? )dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 140,213 | 6,276,341 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133212 | GRCh37: NC_000007.13:g.(?_45130)_(6309816_?)dup, GRCh38: NC_000007.14:g.(?_45130)_(6270185_?)dup, NCBI36: NC_000007.12:g.(?_140213)_(6276341_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000053527.6, VCV000059675.1 | 3 |