A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3684219



Internal ID18635814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19520192..19552280hg38UCSC Ensembl
Innerchr8:19377703..19409791hg19UCSC Ensembl
Innerchr8:19421983..19454071hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3832089
hg1932089
hg1832089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024012
Supporting Variants
Samples
Known GenesCSGALNACT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3684219
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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