A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558887



Internal ID16346296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51820741..51821647hg38UCSC Ensembl
Innerchr12:52214525..52215431hg19UCSC Ensembl
Innerchr12:50500792..50501698hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38907
hg19907
hg18907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2625n54
Supporting Variantsnssv795945
Samples
Known GenesFIGNL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558887
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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