A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3760080



Internal ID19058361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12384994..12697234hg38UCSC Ensembl
Innerchr8:12242503..12554743hg19UCSC Ensembl
Innerchr8:12286874..12599114hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38312241
hg19312241
hg18312241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015147
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3760080
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer