A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023391



Internal ID19112608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:162784..267587hg38UCSC Ensembl
Innerchr8:112784..217587hg19UCSC Ensembl
Innerchr8:102784..207587hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38104804
hg19104804
hg18104804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6790n100
Supporting Variantsnssv3674912
Samples
Known GenesOR4F21, RPL23AP53, ZNF596
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023391
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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