A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2758124



Internal ID17830130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92265729..92272327hg38UCSC Ensembl
Innerchr12:92659505..92666103hg19UCSC Ensembl
Innerchr12:91183636..91190234hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg386599
hg196599
hg186599
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977141
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2758124
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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