A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299657



Internal ID22279749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62048951..62053550hg38UCSC Ensembl
chr20:60624007..60628606hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215782
Supporting Variants
SamplesNA19239
Known GenesTAF4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299657
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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