A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020583



Internal ID19109802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135823020..135885140hg38UCSC Ensembl
Innerchr5:135158709..135220829hg19UCSC Ensembl
Innerchr5:135186608..135248728hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3862121
hg1962121
hg1862121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5812n100
Supporting Variantsnssv3648131
Samples
Known GenesSLC25A48
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020583
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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