nsv6313670
- 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:11,564,661
- Description:GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 28886 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 28887 SVs from 129 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6313670 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 27,468,213 | 39,032,873 |
nsv6313670 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 27,507,832 | 39,072,473 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17970205 | copy number gain | Multiple | Multiple | not specified | Likely pathogenic | ClinVar | RCV002053677.3, VCV001527345.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17970205 | Remapped | Perfect | NC_000007.14:g.(?_ 27468213)_(3903287 3_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 27,468,213 | 39,032,873 |
nssv17970205 | Submitted genomic | NC_000007.13:g.(?_ 27507832)_(3907247 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 27,507,832 | 39,072,473 |
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 |
---|---|---|---|---|---|---|---|
nssv17970205 | GRCh37: NC_000007.13:g.(?_27507832)_(39072473_?)dup | copy number gain | germline | not specified | Likely pathogenic | ClinVar | RCV002053677.3, VCV001527345.3 |