nsv6313819
- 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:601,132
- Description:GRCh37/hg19 7q31.31(chr7:120268066-120869197) 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: 1273 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1273 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313819 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 120,628,012 | 121,229,143 |
| nsv6313819 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 120,268,066 | 120,869,197 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970247 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053719.3, VCV001527387.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970247 | Remapped | Perfect | NC_000007.14:g.(?_ 120628012)_(121229 143_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 120,628,012 | 121,229,143 |
| nssv17970247 | Submitted genomic | NC_000007.13:g.(?_ 120268066)_(120869 197_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 120,268,066 | 120,869,197 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970247 | GRCh37: NC_000007.13:g.(?_120268066)_(120869197_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053719.3, VCV001527387.3 |