A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559996



Internal ID16347405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100545006..100546865hg38UCSC Ensembl
Innerchr12:100938784..100940643hg19UCSC Ensembl
Innerchr12:99462915..99464774hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381860
hg191860
hg181860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801658
Samples
Known GenesNR1H4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559996
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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