A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557677



Internal ID16345086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19294677..19387160hg38UCSC Ensembl
Innerchr12:19447611..19540094hg19UCSC Ensembl
Innerchr12:19338878..19431361hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3892484
hg1992484
hg1892484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2396n54
Supporting Variantsnssv789464
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557677
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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