A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028076



Internal ID19117294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12960373..12982852hg38UCSC Ensembl
Innerchr8:12817882..12840361hg19UCSC Ensembl
Innerchr8:12862253..12884732hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3822480
hg1922480
hg1822480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7084n100
Supporting Variantsnssv3666983, nssv3666982
Samples
Known GenesKIAA1456
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028076
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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