A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459748



Internal ID15519813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25513844hg38UCSC Ensembl
Innerchr22:25664408..25909811hg19UCSC Ensembl
Innerchr22:23994408..24239811hg18UCSC Ensembl
Innerchr22:23988962..24234365hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38245404
hg19245404
hg18245404
hg17245404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv575n27
Supporting Variantsnssv536466
Samples1780854341_A
Known GenesCRYBB2P1, 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)nsv459748
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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