nsv3892428
- 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:18,448
- Description:GRCh37/hg19 7p14.1(chr7:42226378-42244825)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: 94 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 26 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3892428 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 42,186,779 | 42,205,226 |
nsv3892428 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 42,226,378 | 42,244,825 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15140543 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000446363.3, VCV000394643.3 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15140543 | Remapped | Perfect | NC_000007.14:g.(?_ 42186779)_(4220522 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 42,186,779 | 42,205,226 |
nssv15140543 | Submitted genomic | NC_000007.13:g.(?_ 42226378)_(4224482 5_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 42,226,378 | 42,244,825 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15140543 | GRCh37: NC_000007.13:g.(?_42226378)_(42244825_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000446363.3, VCV000394643.3 | 3 |