A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202716



Internal ID20769756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227228742..227231756hg38UCSC Ensembl
chr1:227416443..227419457hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg383015
hg193015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330576
Supporting Variants
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202716
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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