A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2762152



Internal ID17829834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43164431..43173737hg38UCSC Ensembl
Innerchr12:43558234..43567540hg19UCSC Ensembl
Innerchr12:41844501..41853807hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg389307
hg199307
hg189307
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973987
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2762152
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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