A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16267990



Internal ID20477208
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 StatusS
Merged Variantsnsv4753882
Supporting Variants
Samples
Known GenesCCDC173
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16267990
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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