A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030022



Internal ID19119241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:102429052..102517100hg38UCSC Ensembl
Innerchr5:101764756..101852804hg19UCSC Ensembl
Innerchr5:101792655..101880703hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3888049
hg1988049
hg1888049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3645902
Samples
Known GenesSLCO6A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030022
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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