A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212426



Internal ID20779466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112363201..112593539hg38UCSC Ensembl
chr5:111698898..111929236hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38230339
hg19230339
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6405448
Supporting Variants
Samples
Known GenesEPB41L4A, EPB41L4A-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212426
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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