A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998712



Internal ID16944978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26292085..26334184hg38UCSC Ensembl
Outerchr8:26149601..26191700hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3842100
hg1942100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951118
Supporting Variants
SamplesBILGI_BIOE
Known GenesPPP2R2A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998712
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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