A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753882



Internal ID20529742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169685718..169685718hg38UCSC Ensembl
chr2:170542228..170542228hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382334
hg192334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16267990
Samples
Known GenesCCDC173
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753882
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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