A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187640



Internal ID20754680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46607086..46610480hg38UCSC Ensembl
chr11:46628636..46632030hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383395
hg193395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6461689
Supporting Variants
Samples
Known GenesHARBI1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187640
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00051


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