A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559997



Internal ID16347406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100545006..100548104hg38UCSC Ensembl
Innerchr12:100938784..100941882hg19UCSC Ensembl
Innerchr12:99462915..99466013hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2832n54
Supporting Variantsnssv801659
Samples
Known GenesNR1H4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559997
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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