nsv3916683
- 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:26,773,450
- Description:GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)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: 90352 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 90396 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 22862 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 |
|---|---|---|---|---|---|---|---|
| nsv3916683 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 54,185 | 26,827,634 |
| nsv3916683 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 54,185 | 26,867,253 |
| nsv3916683 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 149,268 | 26,833,778 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161072 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136557.6, VCV000147357.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161072 | Submitted genomic | NC_000007.14:g.(?_ 54185)_(26827634_? )dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 54,185 | 26,827,634 |
| nssv15161072 | Submitted genomic | NC_000007.13:g.(?_ 54185)_(26867253_? )dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 54,185 | 26,867,253 |
| nssv15161072 | Submitted genomic | NC_000007.12:g.(?_ 149268)_(26833778_ ?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 149,268 | 26,833,778 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161072 | GRCh37: NC_000007.13:g.(?_54185)_(26867253_?)dup, GRCh38: NC_000007.14:g.(?_54185)_(26827634_?)dup, NCBI36: NC_000007.12:g.(?_149268)_(26833778_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136557.6, VCV000147357.2 | 3 |