A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753823



Internal ID20529683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63445631..63445631hg38UCSC Ensembl
chr20:62076984..62076984hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16289759
Samples
Known GenesKCNQ2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753823
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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