A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3599367



Internal ID18550962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8337970..9209340hg38UCSC Ensembl
Innerchr20:8318617..9189987hg19UCSC Ensembl
Innerchr20:8266617..9137987hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38871371
hg19871371
hg18871371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058716
Supporting Variants
Samples
Known GenesPLCB1, PLCB4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3599367
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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