A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv909458



Internal ID6271385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:21037470..21159533hg19UCSC Ensembl
Outerchr18:21003061..21171145hg19UCSC Ensembl
Innerchr18:19291468..19413531hg18UCSC Ensembl
Outerchr18:19257059..19425143hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1548767
SamplesMS17878
Known GenesC18orf45, C18orf8, NPC1, RIOK3
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv909458
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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