A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973984



Internal ID18262511
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2757089
SamplesHGDP00998
Known GenesARNTL2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973984
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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