A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039681



Internal ID18782212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114191459..114694878hg38UCSC Ensembl
Innerchr9:116953739..117457158hg19UCSC Ensembl
Innerchr9:115993560..116496979hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38503420
hg19503420
hg18503420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7706n100
Supporting Variantsnssv3759817, nssv3759816
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)nsv1039681
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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