A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559461



Internal ID16346870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80542303..80608873hg38UCSC Ensembl
Innerchr12:80936082..81002652hg19UCSC Ensembl
Innerchr12:79460213..79526783hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3866571
hg1966571
hg1866571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2728n54
Supporting Variantsnssv1175887
SamplesHGDP00616
Known GenesPTPRQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559461
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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