A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3691504



Internal ID18643099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124420448..124476811hg38UCSC Ensembl
Innerchr8:125432689..125489052hg19UCSC Ensembl
Innerchr8:125501870..125558233hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3856364
hg1956364
hg1856364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017848
Supporting Variants
Samples
Known GenesRNF139, RNF139-AS1, TRMT12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3691504
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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