A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035050



Internal ID19124269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96386..302856hg38UCSC Ensembl
Innerchr8:46386..252856hg19UCSC Ensembl
Innerchr8:36386..242856hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38206471
hg19206471
hg18206471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6788n100
Supporting Variantsnssv3674897
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)nsv1035050
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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