A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066865



Internal ID18809396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46352413..46490139hg38UCSC Ensembl
Innerchr22:46748310..46886036hg19UCSC Ensembl
Innerchr22:45126974..45264700hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38137727
hg19137727
hg18137727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592264
Samples
Known GenesCELSR1, TRMU
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066865
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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