nsv6634372
- 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:51,031,702
- Description:GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)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: 135711 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 135553 SVs from 146 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634372 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 197,898,784 | 248,930,485 |
| nsv6634372 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 197,867,914 | 249,224,684 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326443 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002287837.1, VCV001708464.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326443 | Remapped | Good | NC_000001.11:g.(19 7898784_?)_(?_2489 30485)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 197,898,784 | 248,930,485 |
| nssv18326443 | Submitted genomic | NC_000001.10:g.(19 7867914_?)_(?_2492 24684)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 197,867,914 | 249,224,684 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326443 | GRCh37: NC_000001.10:g.(197867914_?)_(?_249224684)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV002287837.1, VCV001708464.1 | 3 |