A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559194



Internal ID16346603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63658097..63694565hg38UCSC Ensembl
Innerchr12:64051877..64088345hg19UCSC Ensembl
Innerchr12:62338144..62374612hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3836469
hg1936469
hg1836469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv797549
Samples
Known GenesDPY19L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559194
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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