A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468879



Internal ID6049254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118976719..119059404hg19UCSC Ensembl
Innerchr11:118481929..118564614hg18UCSC Ensembl
Innerchr11:118481929..118564614hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv543933
SamplesNINDS_60
Known GenesABCG4, C2CD2L, HINFP, NLRX1, PDZD3
MethodSNP_genotyping_analysis
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 Provided
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)nsv468879
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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