A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141204



Internal ID18903187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:121480291..121481991hg38UCSC Ensembl
Outerchr11:121351000..121352700hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992710
SamplesKWS2
Known GenesSORL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141204
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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