A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv944883



Internal ID15892153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13110049..13897602hg38UCSC Ensembl
Innerchr21:14482370..15269923hg19UCSC Ensembl
Innerchr21:13404241..14191794hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38787554
hg19787554
hg18787554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586988
Supporting Variants
Samples
Known GenesANKRD30BP2, C21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv944883
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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