A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057497



Internal ID19146716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8121908..8592635hg38UCSC Ensembl
Innerchr20:8102555..8573282hg19UCSC Ensembl
Innerchr20:8050555..8521282hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38470728
hg19470728
hg18470728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599365
Samples
Known GenesPLCB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057497
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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