A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536453



Internal ID15512059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25514700hg38UCSC Ensembl
Innerchr22:25661725..25910667hg19UCSC Ensembl
Innerchr22:23991725..24240667hg18UCSC Ensembl
Innerchr22:23986279..24235221hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248943
hg19248943
hg18248943
hg17248943
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459735
Supporting Variants
SamplesNINDS_195
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)nssv536453
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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