A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558891



Internal ID16346300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51820845..51821667hg38UCSC Ensembl
Innerchr12:52214629..52215451hg19UCSC Ensembl
Innerchr12:50500896..50501718hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38823
hg19823
hg18823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2625n54
Supporting Variantsnssv795959
Samples
Known GenesFIGNL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558891
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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