nsv4457865
- 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:360,538
- Description:GRCh37/hg19 18q21.1(chr18:47103259-47463796)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: 1069 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1069 SVs from 72 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4457865 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 49,576,889 | 49,937,426 |
nsv4457865 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 47,103,259 | 47,463,796 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15775435 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847296.2, VCV000686588.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15775435 | Remapped | Perfect | NC_000018.10:g.(?_ 49576889)_(4993742 6_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 49,576,889 | 49,937,426 |
nssv15775435 | Submitted genomic | NC_000018.9:g.(?_4 7103259)_(47463796 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 47,103,259 | 47,463,796 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15775435 | GRCh37: NC_000018.9:g.(?_47103259)_(47463796_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000847296.2, VCV000686588.2 | 3 |