A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294111



Internal ID22188875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102450206..102450206hg38UCSC Ensembl
chr2:103066666..103066666hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562147
Supporting Variants
SamplesHG00731
Known GenesIL18RAP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294111
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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