A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126077



Internal ID20693117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146913301..146918800hg38UCSC Ensembl
chr5:146292864..146298363hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399137
Supporting Variants
Samples
Known GenesPPP2R2B, PPP2R2B-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126077
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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