A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468868



Internal ID15528933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:110584152..110613827hg38UCSC Ensembl
Innerchr11:110454876..110484551hg19UCSC Ensembl
Innerchr11:109960086..109989761hg18UCSC Ensembl
Innerchr11:109960086..109989761hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3829676
hg1929676
hg1829676
hg1729676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543927
Samples1780854518_A
Known GenesARHGAP20
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv468868
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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