A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3745963



Internal ID18697558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34798496..34981677hg38UCSC Ensembl
Innerchr5:34798601..34981782hg19UCSC Ensembl
Innerchr5:34834358..35017539hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38183182
hg19183182
hg18183182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015535
Supporting Variants
Samples
Known GenesBRIX1, DNAJC21, RAD1, RAI14, TTC23L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3745963
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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