A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060497



Internal ID19149716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14071214..14285512hg38UCSC Ensembl
Innerchr18:14071213..14285511hg19UCSC Ensembl
Innerchr18:14061213..14275511hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38214299
hg19214299
hg18214299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3321n100
Supporting Variantsnssv3564117
Samples
Known GenesANKRD20A5P, ZNF519
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060497
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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