A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468618



Internal ID15181997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:68403545..68463772hg38UCSC Ensembl
Innerchr11:68171013..68231240hg19UCSC Ensembl
Innerchr11:67927589..67987816hg18UCSC Ensembl
Innerchr11:67927589..67987816hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3860228
hg1960228
hg1860228
hg1760228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543720
SamplesHGDP00546
Known GenesLRP5, PPP6R3
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)nsv468618
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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