A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059619



Internal ID19148838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47857930..47874989hg38UCSC Ensembl
Innerchr18:45384301..45401360hg19UCSC Ensembl
Innerchr18:43638299..43655358hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3817060
hg1917060
hg1817060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3352n100
Supporting Variantsnssv3565414
Samples
Known GenesSMAD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059619
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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