A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587951



Internal ID16375360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46128097..46130681hg38UCSC Ensembl
Innerchr21:47548011..47550595hg19UCSC Ensembl
Innerchr21:46372439..46375023hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382585
hg192585
hg182585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949303
Samples
Known GenesCOL6A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587951
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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