A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118217



Internal ID19278574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70078194..70078994hg38UCSC Ensembl
Outerchr11:69924300..69925100hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980886
SamplesKWS1
Known GenesANO1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118217
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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