A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587577



Internal ID16374986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41927447..41933501hg38UCSC Ensembl
Innerchr21:43347556..43353610hg19UCSC Ensembl
Innerchr21:42220625..42226679hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386055
hg196055
hg186055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7852n54
Supporting Variantsnssv947155
Samples
Known GenesC2CD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587577
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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