A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556129



Internal ID16343538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:100842496..100862389hg38UCSC Ensembl
Innerchr11:100713227..100733120hg19UCSC Ensembl
Innerchr11:100218437..100238330hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3819894
hg1919894
hg1819894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174945
Samples1780854117_A
Known GenesARHGAP42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556129
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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