A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118608



Internal ID18910999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:60100..82500hg38UCSC Ensembl
Outerchr19:60100..82500hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3822401
hg1922401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1664n106
Supporting Variantsnssv3959121
SamplesKWS1
Known GenesFAM138A, FAM138F, WASH5P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118608
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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