A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060547



Internal ID18803078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:59985936..60244806hg38UCSC Ensembl
Innerchr18:57653168..57912039hg19UCSC Ensembl
Innerchr18:55804148..56063019hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38258871
hg19258872
hg18258872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726084
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060547
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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