A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046311



Internal ID18788842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114191459..114684862hg38UCSC Ensembl
Innerchr9:116953739..117447142hg19UCSC Ensembl
Innerchr9:115993560..116486963hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38493404
hg19493404
hg18493404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7706n100
Supporting Variantsnssv3695156
Samples
Known GenesAKNA, ATP6V1G1, C9orf91, COL27A1, DFNB31, LOC100505478, MIR455, ORM1, ORM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046311
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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