A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14288327



Internal ID22253873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17887011..17887011hg38UCSC Ensembl
chr2:18068278..18068278hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562320
Supporting Variants
SamplesNA19238
Known GenesKCNS3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14288327
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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