A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557687



Internal ID16345096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19316144..19420716hg38UCSC Ensembl
Innerchr12:19469078..19573650hg19UCSC Ensembl
Innerchr12:19360345..19464917hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38104573
hg19104573
hg18104573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2397n54
Supporting Variantsnssv789478, nssv789479, nssv789480
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557687
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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