A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16267930



Internal ID20477148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217752703..217752703hg38UCSC Ensembl
chr2:218617426..218617426hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4756583
Supporting Variants
Samples
Known GenesDIRC3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16267930
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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