A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118525



Internal ID19271254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113446385..113447685hg38UCSC Ensembl
Outerchr13:114100700..114102000hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959034
SamplesKWS1
Known GenesADPRHL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118525
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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