A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590738



Internal ID16031461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:79536008..81276710hg38UCSC Ensembl
Innerchr3:79585158..81325861hg19UCSC Ensembl
Innerchr3:79667848..81408551hg18UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg381740703
hg191740704
hg181740704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152266
SamplesNINDS_242
Known GenesROBO1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590738
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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