A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468830



Internal ID15528895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:99438277..99516086hg38UCSC Ensembl
Innerchr11:99309008..99386817hg19UCSC Ensembl
Innerchr11:98814218..98892027hg18UCSC Ensembl
Innerchr11:98814218..98892027hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3877810
hg1977810
hg1877810
hg1777810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543901
Samples1780862459_A
Known GenesCNTN5
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)nsv468830
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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