A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285698



Internal ID22263460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:61253..82824hg38UCSC Ensembl
chr19:61253..82824hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3821572
hg1921572
Variant TypeCNV duplication
Copy Number16
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217641
Supporting Variants
SamplesNA19238
Known GenesFAM138A, FAM138F, WASH5P
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285698
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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