A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560457



Internal ID16001180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121510209..121538271hg38UCSC Ensembl
Innerchr12:121948012..121976176hg19UCSC Ensembl
Innerchr12:120432395..120460559hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3828063
hg1928165
hg1828165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803429
Samples
Known GenesKDM2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560457
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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