A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587949



Internal ID16375358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46125312..46128641hg38UCSC Ensembl
Innerchr21:47545226..47548555hg19UCSC Ensembl
Innerchr21:46369654..46372983hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383330
hg193330
hg183330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7921n54
Supporting Variantsnssv949301
Samples
Known GenesCOL6A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587949
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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