A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289329



Internal ID22127817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55045864..55055864hg38UCSC Ensembl
chr2:55273000..55283000hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208751
Supporting Variants
SamplesHG00512
Known GenesRTN4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289329
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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