A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559459



Internal ID16346868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80506122..80547822hg38UCSC Ensembl
Innerchr12:80899901..80941601hg19UCSC Ensembl
Innerchr12:79424032..79465732hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3841701
hg1941701
hg1841701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2727n54
Supporting Variantsnssv798914
Samples
Known GenesPTPRQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559459
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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