A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459792



Internal ID15173171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25598046hg38UCSC Ensembl
Innerchr22:25664408..25994013hg19UCSC Ensembl
Innerchr22:23994408..24324013hg18UCSC Ensembl
Innerchr22:23988962..24318567hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38329606
hg19329606
hg18329606
hg17329606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv577n27
Supporting Variantsnssv536509
SamplesHGDP01255
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
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)nsv459792
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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