A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6414312



Internal ID21071865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112238557..112239142hg38UCSC Ensembl
chr5:111574254..111574839hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125606
Samples
Known GenesEPB41L4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6414312
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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