A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536538



Internal ID15165868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32178287..32470947hg38UCSC Ensembl
Innerchr22:32574274..32866934hg19UCSC Ensembl
Innerchr22:30904274..31196934hg18UCSC Ensembl
Innerchr22:30898828..31191488hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38292661
hg19292661
hg18292661
hg17292661
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459874
Supporting Variants
SamplesNINDS_33
Known GenesBPIFC, LOC339666, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A4
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)nssv536538
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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