A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111278



Internal ID18913923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85696214..85696346hg38UCSC Ensembl
Outerchr4:86617367..86617499hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962577
SamplesKWS1
Known GenesARHGAP24
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111278
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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