A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459677



Internal ID15173056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23553438..23613578hg38UCSC Ensembl
Innerchr22:23895625..23955765hg19UCSC Ensembl
Innerchr22:22225625..22285765hg18UCSC Ensembl
Innerchr22:22220179..22280319hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3860141
hg1960141
hg1860141
hg1760141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536407
SamplesHGDP01155
Known GenesC22orf43, IGLL1
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)nsv459677
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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