A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030511



Internal ID19119730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12780830..13236625hg38UCSC Ensembl
Innerchr5:12780942..13236737hg19UCSC Ensembl
Innerchr5:12833942..13289737hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38455796
hg19455796
hg18455796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3745736
Samples
Known GenesCT49
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030511
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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