A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587778



Internal ID16375187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44300145..44303501hg38UCSC Ensembl
Innerchr21:45720028..45723384hg19UCSC Ensembl
Innerchr21:44544456..44547812hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383357
hg193357
hg183357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948319
Samples
Known GenesPFKL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587778
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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