A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118490



Internal ID18931561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:14846354..14850354hg38UCSC Ensembl
Outerchr11:14867900..14871900hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg384001
hg194001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958999
SamplesKWS1
Known GenesPDE3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118490
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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