A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207917



Internal ID20774957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119672301..119679200hg38UCSC Ensembl
chr3:119391148..119398047hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6371858
Supporting Variants
Samples
Known GenesCOX17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207917
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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