A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960967



Internal ID18867237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111502067..111502212hg38UCSC Ensembl
Outerchr1:112044689..112044834hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142068
Supporting Variants
SamplesKWS1
Known GenesADORA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960967
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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