nsv6637050
- 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:464,902
- Description:GRCh37/hg19 3q29(chr3:195279004-195743958)x4 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: 4423 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 4432 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637050 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,552,186 | 196,017,087 |
| nsv6637050 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,279,004 | 195,743,958 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329837 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473569.1, VCV001808252.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329837 | Remapped | Good | NC_000003.12:g.(?_ 195552186)_(196017 087_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,552,186 | 196,017,087 |
| nssv18329837 | Submitted genomic | NC_000003.11:g.(?_ 195279004)_(195743 958_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,279,004 | 195,743,958 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329837 | GRCh37: NC_000003.11:g.(?_195279004)_(195743958_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473569.1, VCV001808252.1 | 4 |