nsv3916389
- 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:39,404,590
- Description:GRCh38/hg38 4p16.3-14(chr4:72555-39477144)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: 120364 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 120292 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 30493 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916389 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 72,555 | 39,477,144 |
| nsv3916389 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 72,447 | 39,478,764 |
| nsv3916389 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 62,447 | 39,155,159 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146614 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133677.5, VCV000144195.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146614 | Submitted genomic | NC_000004.12:g.(?_ 72555)_(39477144_? )dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 72,555 | 39,477,144 |
| nssv15146614 | Submitted genomic | NC_000004.11:g.(?_ 72447)_(39478764_? )dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 72,447 | 39,478,764 |
| nssv15146614 | Submitted genomic | NC_000004.10:g.(?_ 62447)_(39155159_? )dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 62,447 | 39,155,159 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146614 | GRCh37: NC_000004.11:g.(?_72447)_(39478764_?)dup, GRCh38: NC_000004.12:g.(?_72555)_(39477144_?)dup, NCBI36: NC_000004.10:g.(?_62447)_(39155159_?)dup | copy number gain | paternal | See cases | Pathogenic | ClinVar | RCV000133677.5, VCV000144195.2 | 3 |