A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541739



Internal ID15158210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5345673..5514372hg38UCSC Ensembl
Innerchr9:5345673..5514372hg19UCSC Ensembl
Innerchr9:5335673..5504372hg18UCSC Ensembl
Innerchr9:5335673..5504372hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38168700
hg19168700
hg18168700
hg17168700
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466108
Supporting Variants
Samples1798860570_A
Known GenesCD274, PDCD1LG2, PLGRKT
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)nssv541739
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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