A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3649317



Internal ID18600912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180294376..180864360hg38UCSC Ensembl
Innerchr5:179721376..180291360hg19UCSC Ensembl
Innerchr5:179653982..180223966hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38569985
hg19569985
hg18569985
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026417
Supporting Variants
Samples
Known GenesCNOT6, FLT4, GFPT2, HEIH, LINC00847, MGAT1, OR2Y1, SCGB3A1, ZFP62
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3649317
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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