A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964448



Internal ID18599686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31216079..31269397hg38UCSC Ensembl
Innerchr20:29803909..29857200hg19UCSC Ensembl
Innerchr20:29267512..29320861hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3853319
hg1953292
hg1853350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2763154
SamplesHGDP00778
Known GenesDEFB115
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964448
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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