A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211911



Internal ID20778951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53048788..53050923hg38UCSC Ensembl
chr4:53914955..53917090hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382136
hg192136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6393016
Supporting Variants
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211911
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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