A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2757089



Internal ID17483342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27355015..27361710hg38UCSC Ensembl
Innerchr12:27507948..27514643hg19UCSC Ensembl
Innerchr12:27399215..27405910hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386696
hg196696
hg186696
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973984
Supporting Variants
SamplesHGDP00998
Known GenesARNTL2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2757089
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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