A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468879



Internal ID8495926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:119106009..119188695hg38UCSC Ensembl
Innerchr11:118976719..119059404hg19UCSC Ensembl
Innerchr11:118481929..118564614hg18UCSC Ensembl
Innerchr11:118481929..118564614hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3882687
hg1982686
hg1882686
hg1782686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543933
SamplesNINDS_60
Known GenesABCG4, C2CD2L, HINFP, NLRX1, PDZD3
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)nsv468879
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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