A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3747528



Internal ID19045809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99417695..99543100hg38UCSC Ensembl
Innerchr5:98753399..98878804hg19UCSC Ensembl
Innerchr5:98781298..98906703hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38125406
hg19125406
hg18125406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1033966
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)nssv3747528
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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