A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536412



Internal ID15501918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25227356..25509701hg38UCSC Ensembl
Innerchr22:25623323..25905668hg19UCSC Ensembl
Innerchr22:23953323..24235668hg18UCSC Ensembl
Innerchr22:23947877..24230222hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38282346
hg19282346
hg18282346
hg17282346
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459694
Supporting Variants
Samples1780846322_A
Known GenesCRYBB2, 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)nssv536412
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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