A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587485



Internal ID16028208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39628426..39656270hg38UCSC Ensembl
Innerchr21:41000353..41028197hg19UCSC Ensembl
Innerchr21:39922223..39950067hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3827845
hg1927845
hg1827845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946781
Samples
Known GenesB3GALT5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587485
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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