A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024507



Internal ID18767039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1232783..1269250hg38UCSC Ensembl
Innerchr5:1232898..1269365hg19UCSC Ensembl
Innerchr5:1285898..1322365hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3836468
hg1936468
hg1836468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3638509
Samples
Known GenesSLC6A18, TERT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024507
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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