A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118660



Internal ID19260415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:8595453..8602653hg38UCSC Ensembl
Outerchr20:8576100..8583300hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg387201
hg197201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959174
SamplesKWS1
Known GenesPLCB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118660
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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