A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020189



Internal ID19109408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27965077..27998854hg38UCSC Ensembl
Innerchr8:27822594..27856371hg19UCSC Ensembl
Innerchr8:27878513..27912290hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3833778
hg1933778
hg1833778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7156n100
Supporting Variantsnssv3685536, nssv3685535, nssv3685534
Samples
Known GenesSCARA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020189
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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