nsv3896814
- 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:65,933
- Description:GRCh37/hg19 7q22.3(chr7:107156793-107222725)x1 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: 217 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3896814 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 107,516,348 | 107,582,280 |
| nsv3896814 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017852930.1 | Chr7|NW_01 7852930.1 | 362,003 | 427,935 |
| nsv3896814 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 107,156,793 | 107,222,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151467 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000682769.2, VCV000563280.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151467 | Remapped | Perfect | NW_017852930.1:g.( ?_362003)_(427935_ ?)del | GRCh38.p12 | Second Pass | NW_017852930.1 | Chr7|NW_01 7852930.1 | 362,003 | 427,935 |
| nssv15151467 | Remapped | Perfect | NC_000007.14:g.(?_ 107516348)_(107582 280_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 107,516,348 | 107,582,280 |
| nssv15151467 | Submitted genomic | NC_000007.13:g.(?_ 107156793)_(107222 725_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 107,156,793 | 107,222,725 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151467 | GRCh37: NC_000007.13:g.(?_107156793)_(107222725_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV000682769.2, VCV000563280.2 | 1 |