A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176471



Internal ID15879972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114193988..114693530hg38UCSC Ensembl
Innerchr9:116956268..117455810hg19UCSC Ensembl
Innerchr9:115996089..116495631hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38499543
hg19499543
hg18499543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv615234
Supporting Variants
SamplesNINDS_133
Known GenesAKNA, ATP6V1G1, C9orf91, COL27A1, DFNB31, LOC100505478, MIR455, ORM1, ORM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176471
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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