A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586497



Internal ID16027220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62345988..62415019hg38UCSC Ensembl
Innerchr20:60921044..60990075hg19UCSC Ensembl
Innerchr20:60354439..60423470hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3869032
hg1969032
hg1869032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv942122
Samples
Known GenesCABLES2, LAMA5, RBBP8NL, RPS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586497
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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