A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3690078



Internal ID18988359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141195805..141236451hg38UCSC Ensembl
Innerchr8:142205904..142246550hg19UCSC Ensembl
Innerchr8:142275086..142315732hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3840647
hg1940647
hg1840647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019363
Supporting Variants
Samples
Known GenesSLC45A4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3690078
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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