A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587976



Internal ID16375385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46256797..46267230hg38UCSC Ensembl
Innerchr21:47676711..47687144hg19UCSC Ensembl
Innerchr21:46501139..46511572hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3810434
hg1910434
hg1810434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949343
Samples
Known GenesMCM3AP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587976
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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