A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559838



Internal ID16000561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96193146..96194602hg38UCSC Ensembl
Innerchr12:96586924..96588380hg19UCSC Ensembl
Innerchr12:95111055..95112511hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381457
hg191457
hg181457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2805n54
Supporting Variantsnssv800850, nssv800849
Samples
Known GenesELK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559838
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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