A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301054



Internal ID22273280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59830179..59830179hg38UCSC Ensembl
chr20:58405234..58405234hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561764
Supporting Variants
SamplesNA19239
Known GenesPHACTR3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301054
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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