A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033961



Internal ID18776495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1128595..1248239hg38UCSC Ensembl
Innerchr5:1128710..1248354hg19UCSC Ensembl
Innerchr5:1181710..1301354hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38119645
hg19119645
hg18119645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3638507
Samples
Known GenesSLC6A18, SLC6A19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033961
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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