A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550391



Internal ID15991114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34383535..35056041hg38UCSC Ensembl
Innerchr10:34672463..35344969hg19UCSC Ensembl
Innerchr10:34712469..35384975hg18UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38672507
hg19672507
hg18672507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174974
SamplesHGDP00719
Known GenesCUL2, PARD3, PARD3-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550391
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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