A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048327



Internal ID18790858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112620973..112827366hg38UCSC Ensembl
Innerchr9:115383253..115589646hg19UCSC Ensembl
Innerchr9:114423074..114629467hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38206394
hg19206394
hg18206394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7701n100
Supporting Variantsnssv3695067
Samples
Known GenesINIP, KIAA1958, SNX30
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048327
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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