A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18123070



Internal ID20690110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112390232..112434849hg38UCSC Ensembl
chr5:111725929..111770546hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3844618
hg1944618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401320
Supporting Variants
Samples
Known GenesEPB41L4A, EPB41L4A-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18123070
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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