A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468586



Internal ID15181965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:62372597..62415535hg38UCSC Ensembl
Innerchr11:62140069..62183007hg19UCSC Ensembl
Innerchr11:61896645..61939583hg18UCSC Ensembl
Innerchr11:61896645..61939583hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3842939
hg1942939
hg1842939
hg1742939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543698
SamplesNINDS_271
Known GenesASRGL1
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)nsv468586
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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