A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120514



Internal ID19278360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131920899..131920993hg38UCSC Ensembl
Outerchr5:131256592..131256686hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962123
SamplesKWS1
Known GenesLOC728637
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120514
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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