A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118716



Internal ID19260836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:49492483..49591983hg38UCSC Ensembl
Outerchr4:49494500..49594000hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3899501
hg1999501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959610
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118716
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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