A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3687246



Internal ID18985527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:41985034..42023039hg38UCSC Ensembl
Innerchr8:41842552..41880557hg19UCSC Ensembl
Innerchr8:41961709..41999714hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3838006
hg1938006
hg1838006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025206
Supporting Variants
Samples
Known GenesKAT6A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3687246
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