A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193292



Internal ID20760332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77595936..77852194hg38UCSC Ensembl
chr10:79355694..79611952hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38256259
hg19256259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6452568
Supporting Variants
Samples
Known GenesDLG5, KCNMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193292
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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