A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3690059



Internal ID18988340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:138897956..138977763hg38UCSC Ensembl
Innerchr8:139910199..139990006hg19UCSC Ensembl
Innerchr8:139979381..140059188hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3879808
hg1979808
hg1879808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027877
Supporting Variants
Samples
Known GenesCOL22A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3690059
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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