A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv885769



Internal ID6292780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33379218..33411299hg19UCSC Ensembl
Outerchr6:33377522..33412197hg19UCSC Ensembl
Innerchr6:33487196..33519277hg18UCSC Ensembl
Outerchr6:33485500..33520175hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1509860
SamplesSP54956
Known GenesCUTA, KIFC1, PHF1, SYNGAP1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv885769
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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