A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202719



Internal ID20769759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227302252..227466289hg38UCSC Ensembl
chr1:227489953..227653990hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38164038
hg19164038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330225
Supporting Variants
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202719
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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