A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18100592



Internal ID20667632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189977006..192427321hg38UCSC Ensembl
chr3:189694795..192145110hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382450316
hg192450316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6367267
Supporting Variants
Samples
Known GenesCCDC50, CLDN1, CLDN16, FGF12, GMNC, IL1RAP, LEPREL1, OSTN, PYDC2, SNAR-I, TMEM207, UTS2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18100592
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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