A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028114



Internal ID19117332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42288510..42301144hg38UCSC Ensembl
Innerchr8:42146028..42158662hg19UCSC Ensembl
Innerchr8:42265185..42277819hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3812635
hg1912635
hg1812635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7185n100
Supporting Variantsnssv3687250, nssv3687249, nssv3687251
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)nsv1028114
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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