A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582659



Internal ID16023382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110072078..110222769hg38UCSC Ensembl
Innerchr2:110829655..110980346hg19UCSC Ensembl
Innerchr2:110186944..110337635hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38150692
hg19150692
hg18150692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7000n54
Supporting Variantsnssv916036
Samples
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582659
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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