A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554347



Internal ID15995070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:49089915..49935211hg38UCSC Ensembl
Innerchr11:49111467..49956763hg19UCSC Ensembl
Innerchr11:49068043..49913339hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38845297
hg19845297
hg18845297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174298, nssv1174297
SamplesHGDP00789, HGDP00825
Known GenesFOLH1, LOC440040
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554347
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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