A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1664n106



Internal ID20161021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:60001..82500hg38UCSC Ensembl
chr19:60000..82500hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3822500
hg1922501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1118608, nsv1139689
SamplesKWS2, KWS1
Known GenesFAM138A, FAM138F, WASH5P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1664n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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