A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058716



Internal ID18801247
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 StatusM
Merged Variants
Supporting Variantsnssv3599367
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)nsv1058716
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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