A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4008361



Internal ID22069992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7818125..7982496hg38UCSC Ensembl
Outerchr12:7811433..7985126hg38UCSC Ensembl
Innerchr12:7970721..8135092hg19UCSC Ensembl
Outerchr12:7964029..8137722hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38173694
hg19173694
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154794
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4008361
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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