A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400014



Internal ID21057567
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 StatusM
Merged Variants
Supporting Variantsnssv18212424
Samples
Known GenesAPC, EPB41L4A, EPB41L4A-AS1, EPB41L4A-AS2, LOC102467214, LOC102467216, SNORA13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400014
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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