A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3746682



Internal ID18698277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178080079..178432088hg38UCSC Ensembl
Innerchr5:177507080..177859089hg19UCSC Ensembl
Innerchr5:177439686..177791695hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38352010
hg19352010
hg18352010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019404
Supporting Variants
Samples
Known GenesCOL23A1, GMCL1P1, HNRNPAB, N4BP3, NHP2, PHYKPL, RMND5B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3746682
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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