A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034576



Internal ID19123798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:21905882..22032935hg38UCSC Ensembl
Innerchr8:21763393..21890446hg19UCSC Ensembl
Innerchr8:21819339..21946392hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38127054
hg19127054
hg18127054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7132n100
Supporting Variantsnssv3685341
Samples
Known GenesDOK2, NPM2, XPO7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034576
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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