A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467662



Internal ID15527727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4164365..4251113hg38UCSC Ensembl
Innerchr11:4185595..4272343hg19UCSC Ensembl
Innerchr11:4142171..4228919hg18UCSC Ensembl
Innerchr11:4142171..4228919hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3886749
hg1986749
hg1886749
hg1786749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542877
SamplesHGDP01339
Known GenesLOC100506082
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)nsv467662
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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