A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065021



Internal ID19154240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13080529..13224699hg38UCSC Ensembl
Innerchr21:14452850..14597020hg19UCSC Ensembl
Innerchr21:13374721..13518891hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38144171
hg19144171
hg18144171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4380n100
Supporting Variantsnssv3585262
Samples
Known GenesANKRD30BP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065021
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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