A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212424



Internal ID20779464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112085398..112780300hg38UCSC Ensembl
chr5:111421095..112115997hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38694903
hg19694903
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400014
Supporting Variants
Samples
Known GenesAPC, EPB41L4A, EPB41L4A-AS1, EPB41L4A-AS2, LOC102467214, LOC102467216, SNORA13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212424
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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