A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983206



Internal ID18618400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:73854193..73869417hg38UCSC Ensembl
Innerchr11:73565238..73580462hg19UCSC Ensembl
Innerchr11:73242886..73258110hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3815225
hg1915225
hg1815225
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2760032
SamplesHGDP00998
Known GenesMRPL48
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983206
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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