A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17646948



Internal ID21838995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64012512..64012512hg38UCSC Ensembl
chr20:62643865..62643865hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6112241
Supporting Variants
Samples
Known GenesPRPF6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17646948
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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