nsv3917886
- 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:4,139,733
- Description:GRCh38/hg38 7p14.3(chr7:30420933-34560665)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: 10353 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 10353 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 3023 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917886 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 30,420,933 | 34,560,665 |
| nsv3917886 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 30,460,549 | 34,600,277 |
| nsv3917886 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 30,427,074 | 34,566,802 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133397 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051178.6, VCV000057469.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133397 | Submitted genomic | NC_000007.14:g.(?_ 30420933)_(3456066 5_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 30,420,933 | 34,560,665 |
| nssv15133397 | Submitted genomic | NC_000007.13:g.(?_ 30460549)_(3460027 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 30,460,549 | 34,600,277 |
| nssv15133397 | Submitted genomic | NC_000007.12:g.(?_ 30427074)_(3456680 2_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 30,427,074 | 34,566,802 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133397 | GRCh37: NC_000007.13:g.(?_30460549)_(34600277_?)dup, GRCh38: NC_000007.14:g.(?_30420933)_(34560665_?)dup, NCBI36: NC_000007.12:g.(?_30427074)_(34566802_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051178.6, VCV000057469.1 | 3 |