A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034372



Internal ID19123594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96386..253720hg38UCSC Ensembl
Innerchr8:46386..203720hg19UCSC Ensembl
Innerchr8:36386..193720hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38157335
hg19157335
hg18157335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6788n100
Supporting Variantsnssv3674895
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)nsv1034372
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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