A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557692



Internal ID16345101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19319901..19425173hg38UCSC Ensembl
Innerchr12:19472835..19578107hg19UCSC Ensembl
Innerchr12:19364102..19469374hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38105273
hg19105273
hg18105273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2397n54
Supporting Variantsnssv1175438
Samples1780862373_A
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557692
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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