A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067181



Internal ID18809712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13041804..13715620hg38UCSC Ensembl
Innerchr21:14414125..15087941hg19UCSC Ensembl
Innerchr21:13335996..14009812hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38673817
hg19673817
hg18673817
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4379n100
Supporting Variantsnssv3585260
Samples
Known GenesANKRD30BP2, LOC100288966, MIR3156-3, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067181
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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