A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559023



Internal ID15999746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57136887..57222278hg38UCSC Ensembl
Innerchr12:57530670..57616061hg19UCSC Ensembl
Innerchr12:55816937..55902328hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3885392
hg1985392
hg1885392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175725
SamplesHGDP00770
Known GenesLRP1, MIR1228, NXPH4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559023
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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