A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040651



Internal ID18783182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110161896..110308298hg38UCSC Ensembl
Innerchr9:112924176..113070578hg19UCSC Ensembl
Innerchr9:111963997..112110399hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38146403
hg19146403
hg18146403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3695046
Samples
Known GenesAKAP2, C9orf152, PALM2-AKAP2, TXN, TXNDC8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040651
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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