A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459933



Internal ID15173312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50667128..50727236hg38UCSC Ensembl
Innerchr22:51105556..51165664hg19UCSC Ensembl
Innerchr22:49452422..49512530hg18UCSC Ensembl
Innerchr22:49395700..49455808hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3860109
hg1960109
hg1860109
hg1760109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536581
Samples1780862197_A
Known GenesSHANK3
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)nsv459933
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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