A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022787



Internal ID19112005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72686279..72723225hg38UCSC Ensembl
Innerchr8:73598514..73635460hg19UCSC Ensembl
Innerchr8:73761068..73798014hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3836947
hg1936947
hg1836947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7239n100
Supporting Variantsnssv3689533
Samples
Known GenesKCNB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022787
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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