A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992710



Internal ID18896805
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 StatusS
Merged Variantsnsv1141204
Supporting Variants
SamplesKWS2
Known GenesSORL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992710
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer