nsv3909428
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:18,583
- Description:GRCh37/hg19 7p22.1(chr7:4821300-4839882)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 230 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 230 SVs from 47 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3909428 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 4,781,669 | 4,800,251 |
nsv3909428 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 4,821,300 | 4,839,882 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15166857 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000746384.2, VCV000609748.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15166857 | Remapped | Perfect | NC_000007.14:g.(?_ 4781669)_(4800251_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,781,669 | 4,800,251 |
nssv15166857 | Submitted genomic | NC_000007.13:g.(?_ 4821300)_(4839882_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 4,821,300 | 4,839,882 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15166857 | GRCh37: NC_000007.13:g.(?_4821300)_(4839882_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000746384.2, VCV000609748.2 | 3 |