A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554223



Internal ID15994946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48483044..49935211hg38UCSC Ensembl
Innerchr11:48504596..49956763hg19UCSC Ensembl
Innerchr11:48461172..49913339hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg381452168
hg191452168
hg181452168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174787, nssv1174786
SamplesHGDP00823, HGDP00656
Known GenesFOLH1, LOC440040, OR4A47, TRIM49B, TRIM64C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554223
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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