A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14326482



Internal ID22286319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42936096..42936096hg38UCSC Ensembl
chr6:42903834..42903834hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564658
Supporting Variants
SamplesNA19240
Known GenesCNPY3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14326482
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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