A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029677



Internal ID19118896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25994807..26054698hg38UCSC Ensembl
Innerchr8:25852323..25912214hg19UCSC Ensembl
Innerchr8:25908240..25968131hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3859892
hg1959892
hg1859892
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7152n100
Supporting Variantsnssv3685513
Samples
Known GenesEBF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029677
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