A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207326



Internal ID20774367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162465201..162473700hg38UCSC Ensembl
chr2:163321711..163330210hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6340119
Supporting Variants
Samples
Known GenesKCNH7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207326
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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