A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468763



Internal ID15528828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:83085381..83125337hg38UCSC Ensembl
Innerchr11:82796423..82836379hg19UCSC Ensembl
Innerchr11:82474071..82514027hg18UCSC Ensembl
Innerchr11:82474071..82514027hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3839957
hg1939957
hg1839957
hg1739957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543854
SamplesNINDS_236
Known Genes
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)nsv468763
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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