A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv944880



Internal ID15892150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12965965..13967777hg38UCSC Ensembl
Innerchr21:14338286..15340098hg19UCSC Ensembl
Innerchr21:13260157..14261969hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg381001813
hg191001813
hg181001813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586985
Supporting Variants
Samples
Known GenesANKRD20A11P, ANKRD30BP2, 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)nssv944880
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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