A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234030



Internal ID20801071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140780466..140781102hg38UCSC Ensembl
chr8:141790565..141791201hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6418486
Supporting Variants
Samples
Known GenesPTK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234030
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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