A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536548



Internal ID15158814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41231539..41454496hg38UCSC Ensembl
Innerchr22:41627543..41850500hg19UCSC Ensembl
Innerchr22:39957489..40180446hg18UCSC Ensembl
Innerchr22:39952043..40175000hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38222958
hg19222958
hg18222958
hg17222958
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459888
Supporting Variants
SamplesHGDP00143
Known GenesCHADL, MIR6889, RANGAP1, TEF, TOB2, ZC3H7B
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)nssv536548
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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