A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139689



Internal ID18922869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:60001..78300hg38UCSC Ensembl
Outerchr19:60000..78300hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3818300
hg1918301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1664n106
Supporting Variantsnssv3977275
SamplesKWS2
Known GenesFAM138A, FAM138F, WASH5P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139689
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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