nsv6637474
- 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:1,012,844
- Description:GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3 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: 6216 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 6215 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 42,579,915 | 43,592,758 |
| nsv6637474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 43,084,067 | 44,096,910 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329649 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472871.1, VCV001808065.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329649 | Remapped | Perfect | NC_000019.10:g.(?_ 42579915)_(4359275 8_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,579,915 | 43,592,758 |
| nssv18329649 | Submitted genomic | NC_000019.9:g.(?_4 3084067)_(44096910 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,084,067 | 44,096,910 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329649 | GRCh37: NC_000019.9:g.(?_43084067)_(44096910_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472871.1, VCV001808065.1 | 3 |