A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299474



Internal ID22257734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50609940..50610066hg38UCSC Ensembl
chr20:49226477..49226603hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228870
Supporting Variants
SamplesNA19238
Known GenesFAM65C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299474
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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