nsv4455264
- 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:412,807
- Description:GRCh37/hg19 14q23.3(chr14:65996716-66409522)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: 1044 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1044 SVs from 71 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4455264 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 65,529,998 | 65,942,804 |
nsv4455264 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 65,996,716 | 66,409,522 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15772128 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846703.2, VCV000685995.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15772128 | Remapped | Perfect | NC_000014.9:g.(?_6 5529998)_(65942804 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 65,529,998 | 65,942,804 |
nssv15772128 | Submitted genomic | NC_000014.8:g.(?_6 5996716)_(66409522 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 65,996,716 | 66,409,522 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15772128 | GRCh37: NC_000014.8:g.(?_65996716)_(66409522_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846703.2, VCV000685995.2 | 3 |