A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468620



Internal ID15528685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:69037338..69088127hg38UCSC Ensembl
Innerchr11:68804806..68855595hg19UCSC Ensembl
Innerchr11:68561382..68612171hg18UCSC Ensembl
Innerchr11:68561382..68612171hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3850790
hg1950790
hg1850790
hg1750790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543722
SamplesHGDP00336
Known GenesTPCN2
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)nsv468620
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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