A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582518



Internal ID16369927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98882311..98929892hg38UCSC Ensembl
Innerchr2:99498774..99546355hg19UCSC Ensembl
Innerchr2:98865206..98912787hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3847582
hg1947582
hg1847582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv914148
Samples
Known GenesKIAA1211L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582518
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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