A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4756583



Internal ID20532443
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 StatusM
Merged Variants
Supporting Variantsnssv16267930
Samples
Known GenesDIRC3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4756583
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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