A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033531



Internal ID19122752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25994807..26047248hg38UCSC Ensembl
Innerchr8:25852323..25904764hg19UCSC Ensembl
Innerchr8:25908240..25960681hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3852442
hg1952442
hg1852442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7152n100
Supporting Variantsnssv3685512
Samples
Known GenesEBF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033531
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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