A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2833n54



Internal ID22770728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100545006..100549902hg38UCSC Ensembl
chr12:100938784..100943680hg19UCSC Ensembl
chr12:99462915..99467811hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384897
hg194897
hg184897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560002, nsv560000, nsv560001, nsv559999, nsv560004
Samples
Known GenesNR1H4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2833n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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