A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557685



Internal ID16345094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19316144..19408609hg38UCSC Ensembl
Innerchr12:19469078..19561543hg19UCSC Ensembl
Innerchr12:19360345..19452810hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3892466
hg1992466
hg1892466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2397n54
Supporting Variantsnssv789475, nssv789476
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557685
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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