A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031378



Internal ID19120600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:162784..288574hg38UCSC Ensembl
Innerchr8:112784..238574hg19UCSC Ensembl
Innerchr8:102784..228574hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38125791
hg19125791
hg18125791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674913
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)nsv1031378
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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