A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207386



Internal ID20774427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169652264..169783291hg38UCSC Ensembl
chr2:170508774..170639801hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38131028
hg19131028
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341724
Supporting Variants
Samples
Known GenesCCDC173, KLHL23, PHOSPHO2, PHOSPHO2-KLHL23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207386
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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