A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv898812



Internal ID6305823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12858969..12882328hg19UCSC Ensembl
Outerchr12:12850368..12894879hg19UCSC Ensembl
Innerchr12:12750236..12773595hg18UCSC Ensembl
Outerchr12:12741635..12786146hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1600421
SamplesIS41881
Known GenesAPOLD1, CDKN1B
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv898812
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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