A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023243



Internal ID18765775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:79748262..79803518hg38UCSC Ensembl
Innerchr8:80660497..80715753hg19UCSC Ensembl
Innerchr8:80823052..80878308hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3855257
hg1955257
hg1855257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7245n100
Supporting Variantsnssv3689586
Samples
Known GenesHEY1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023243
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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