A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541878



Internal ID15509491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:20832096..20932869hg38UCSC Ensembl
Innerchr9:20832095..20932868hg19UCSC Ensembl
Innerchr9:20822095..20922868hg18UCSC Ensembl
Innerchr9:20822095..20922868hg17UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38100774
hg19100774
hg18100774
hg17100774
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466292
Supporting Variants
SamplesHGDP01021
Known GenesFOCAD
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)nssv541878
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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