A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043494



Internal ID18786025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:109988131..110214627hg38UCSC Ensembl
Innerchr9:112750411..112976907hg19UCSC Ensembl
Innerchr9:111790232..112016728hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38226497
hg19226497
hg18226497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3695044, nssv3695045
Samples
Known GenesAKAP2, C9orf152, PALM2-AKAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043494
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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