A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468588



Internal ID15181967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:63465891..63552767hg38UCSC Ensembl
Innerchr11:63233363..63320239hg19UCSC Ensembl
Innerchr11:62989939..63076815hg18UCSC Ensembl
Innerchr11:62989939..63076815hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3886877
hg1986877
hg1886877
hg1786877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543700
Samples1780854205_A
Known GenesHRASLS5, LGALS12, MIR3680-1, MIR3680-2, RARRES3
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)nsv468588
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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