A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115404



Internal ID18931887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:34483453..34484653hg38UCSC Ensembl
Outerchr11:34505000..34506200hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976457
SamplesKWS2
Known GenesELF5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115404
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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