nsv3917247
- 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:5,270,773
- Description:GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)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: 13466 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 13430 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 3560 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917247 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 128,747,478 | 134,018,250 |
| nsv3917247 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 128,387,532 | 133,703,003 |
| nsv3917247 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 128,174,768 | 133,353,543 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132342 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051072.4, VCV000057379.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132342 | Submitted genomic | NC_000007.14:g.(?_ 128747478)_(134018 250_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 128,747,478 | 134,018,250 |
| nssv15132342 | Submitted genomic | NC_000007.13:g.(?_ 128387532)_(133703 003_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 128,387,532 | 133,703,003 |
| nssv15132342 | Submitted genomic | NC_000007.12:g.(?_ 128174768)_(133353 543_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 128,174,768 | 133,353,543 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132342 | GRCh37: NC_000007.13:g.(?_128387532)_(133703003_?)dup, GRCh38: NC_000007.14:g.(?_128747478)_(134018250_?)dup, NCBI36: NC_000007.12:g.(?_128174768)_(133353543_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000051072.4, VCV000057379.1 | 3 |