A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060721



Internal ID19149940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46675963..46750478hg38UCSC Ensembl
Innerchr22:47071860..47146375hg19UCSC Ensembl
Innerchr22:45450524..45525039hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3874516
hg1974516
hg1874516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3737484
Samples
Known GenesCERK, GRAMD4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060721
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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