A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559839



Internal ID16000562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96193146..96194757hg38UCSC Ensembl
Innerchr12:96586924..96588535hg19UCSC Ensembl
Innerchr12:95111055..95112666hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381612
hg191612
hg181612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2805n54
Supporting Variantsnssv800851
Samples
Known GenesELK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559839
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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