A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3963779



Internal ID19210733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53753803..53753907hg38UCSC Ensembl
Outerchr12:54147587..54147691hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116700
Supporting Variants
SamplesKWS1
Known GenesCISTR-ACT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3963779
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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