A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3689554



Internal ID18987835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72688105..72723654hg38UCSC Ensembl
Innerchr8:73600340..73635889hg19UCSC Ensembl
Innerchr8:73762894..73798443hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3835550
hg1935550
hg1835550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015466
Supporting Variants
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)nssv3689554
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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