A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214478



Internal ID20781518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134406612..134407533hg38UCSC Ensembl
chr5:133742303..133743224hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38922
hg19922
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399885
Supporting Variants
Samples
Known GenesCDKN2AIPNL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214478
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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