A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048817



Internal ID18791348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114195678..114693930hg38UCSC Ensembl
Innerchr9:116957958..117456210hg19UCSC Ensembl
Innerchr9:115997779..116496031hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38498253
hg19498253
hg18498253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7706n100
Supporting Variantsnssv3695159
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)nsv1048817
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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