A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125886



Internal ID18929219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:118690555..118692763hg38UCSC Ensembl
Outerchr6:119011718..119013926hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg382209
hg192209
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984092
SamplesKWS2
Known GenesCEP85L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125886
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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