A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017494



Internal ID19106711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72687829..72724474hg38UCSC Ensembl
Innerchr8:73600064..73636709hg19UCSC Ensembl
Innerchr8:73762618..73799263hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3836646
hg1936646
hg1836646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7239n100
Supporting Variantsnssv3757296, nssv3689550, nssv3757295, nssv3689553, nssv3689552, nssv3689551
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)nsv1017494
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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