A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952206



Internal ID16954393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:79892121..79929720hg38UCSC Ensembl
Outerchr12:80285901..80323500hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3837600
hg1937600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997328
SamplesBILGI_BIOE
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952206
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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