A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230231



Internal ID20797271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79401967..79507406hg38UCSC Ensembl
chr6:80111684..80217123hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38105440
hg19105440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404887
Supporting Variants
Samples
Known GenesLCA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230231
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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