A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557794



Internal ID15998517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24811449..24817774hg38UCSC Ensembl
Innerchr12:24964383..24970708hg19UCSC Ensembl
Innerchr12:24855650..24861975hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386326
hg196326
hg186326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789865
Samples
Known GenesBCAT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557794
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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