A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062639



Internal ID18805170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13403408..14135181hg38UCSC Ensembl
Innerchr21:14775729..15507502hg19UCSC Ensembl
Innerchr21:13697600..14429373hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38731774
hg19731774
hg18731774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4385n100
Supporting Variantsnssv3586441
Samples
Known GenesANKRD20A11P, C21orf15, LIPI, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062639
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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