nsv4457412
- 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:302,219
- Description:GRCh37/hg19 19q13.31(chr19:43803157-44105375)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: 1455 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1455 SVs from 95 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4457412 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 43,299,005 | 43,601,223 |
nsv4457412 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 43,803,157 | 44,105,375 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15771897 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000845850.2, VCV000685142.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15771897 | Remapped | Perfect | NC_000019.10:g.(?_ 43299005)_(4360122 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,299,005 | 43,601,223 |
nssv15771897 | Submitted genomic | NC_000019.9:g.(?_4 3803157)_(44105375 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,803,157 | 44,105,375 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15771897 | GRCh37: NC_000019.9:g.(?_43803157)_(44105375_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000845850.2, VCV000685142.2 | 3 |