A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3489478



Internal ID19077119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178489573..178512778hg38UCSC Ensembl
Innerchr1:178458708..178481913hg19UCSC Ensembl
Innerchr1:176725331..176748536hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3823206
hg1923206
hg1823206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009797
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3489478
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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