nsv3922329
- 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:27,153,045
- Description:GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)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: 91269 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 91312 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 23091 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922329 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 43,360 | 27,196,404 |
| nsv3922329 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 43,360 | 27,236,023 |
| nsv3922329 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 138,443 | 27,202,548 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161812 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143586.6, VCV000155519.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161812 | Submitted genomic | NC_000007.14:g.(?_ 43360)_(27196404_? )dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 43,360 | 27,196,404 |
| nssv15161812 | Submitted genomic | NC_000007.13:g.(?_ 43360)_(27236023_? )dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 43,360 | 27,236,023 |
| nssv15161812 | Submitted genomic | NC_000007.12:g.(?_ 138443)_(27202548_ ?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 138,443 | 27,202,548 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161812 | GRCh37: NC_000007.13:g.(?_43360)_(27236023_?)dup, GRCh38: NC_000007.14:g.(?_43360)_(27196404_?)dup, NCBI36: NC_000007.12:g.(?_138443)_(27202548_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143586.6, VCV000155519.2 | 3 |