A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972949



Internal ID18608165
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2760545
SamplesHGDP00998
Known GenesCELF1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972949
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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