A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020408



Internal ID19109627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42290622..42301144hg38UCSC Ensembl
Innerchr8:42148140..42158662hg19UCSC Ensembl
Innerchr8:42267297..42277819hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3810523
hg1910523
hg1810523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7185n100
Supporting Variantsnssv3687255, nssv3687256, nssv3687257, nssv3687258
Samples
Known GenesIKBKB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020408
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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