A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2066154



Internal ID17534244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70160785..70164354hg38UCSC Ensembl
Innerchr16:70194688..70198257hg19UCSC Ensembl
Innerchr16:68752189..68755758hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383570
hg193570
hg183570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv977992
Supporting Variants
SamplesHGDP01307
Known GenesPDPR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2066154
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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