A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057722



Internal ID18800253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47817594..47874989hg38UCSC Ensembl
Innerchr18:45343965..45401360hg19UCSC Ensembl
Innerchr18:43597963..43655358hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3857396
hg1957396
hg1857396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565395
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)nsv1057722
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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