A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535478



Internal ID15165966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86065218..86280565hg38UCSC Ensembl
Innerchr2:86292341..86507688hg19UCSC Ensembl
Innerchr2:86145852..86361199hg18UCSC Ensembl
Innerchr2:86203999..86419346hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38215348
hg19215348
hg18215348
hg17215348
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458563
Supporting Variants
SamplesNINDS_47
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
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)nssv535478
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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