A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125845



Internal ID19267604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:77470878..77477276hg38UCSC Ensembl
Outerchr5:76766703..76773101hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386399
hg196399
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984053
SamplesKWS2
Known GenesWDR41
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125845
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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