A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468880



Internal ID15528945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:119693786..119717352hg38UCSC Ensembl
Innerchr11:119564496..119588062hg19UCSC Ensembl
Innerchr11:119069706..119093272hg18UCSC Ensembl
Innerchr11:119069706..119093272hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3823567
hg1923567
hg1823567
hg1723567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543934
SamplesNINDS_166
Known GenesPVRL1
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)nsv468880
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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