A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2760545



Internal ID17826752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:47499970..47503485hg38UCSC Ensembl
Innerchr11:47521522..47525037hg19UCSC Ensembl
Innerchr11:47478098..47481613hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383516
hg193516
hg183516
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972949
Supporting Variants
SamplesHGDP00998
Known GenesCELF1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2760545
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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