A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536413



Internal ID15510743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25227356..25513288hg38UCSC Ensembl
Innerchr22:25623323..25909255hg19UCSC Ensembl
Innerchr22:23953323..24239255hg18UCSC Ensembl
Innerchr22:23947877..24233809hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38285933
hg19285933
hg18285933
hg17285933
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459695
Supporting Variants
SamplesHGDP01290
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)nssv536413
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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