nsv3898092
- 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:47,462
- Description:GRCh37/hg19 19p13.11(chr19:17417252-17464713)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: 362 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 65 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3898092 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 17,306,443 | 17,353,904 |
nsv3898092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 17,417,252 | 17,464,713 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15160065 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000740065.2, VCV000603429.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15160065 | Remapped | Perfect | NC_000019.10:g.(?_ 17306443)_(1735390 4_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 17,306,443 | 17,353,904 |
nssv15160065 | Submitted genomic | NC_000019.9:g.(?_1 7417252)_(17464713 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 17,417,252 | 17,464,713 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15160065 | GRCh37: NC_000019.9:g.(?_17417252)_(17464713_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000740065.2, VCV000603429.2 | 3 |