A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559427



Internal ID16346836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:77422387..77513838hg38UCSC Ensembl
Innerchr12:77816167..77907618hg19UCSC Ensembl
Innerchr12:76340298..76431749hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3891452
hg1991452
hg1891452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798869
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559427
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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