A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587685



Internal ID16028408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43415628..43450270hg38UCSC Ensembl
Innerchr21:44835508..44870150hg19UCSC Ensembl
Innerchr21:43659936..43694578hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3834643
hg1934643
hg1834643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7871n54
Supporting Variantsnssv1152420
Samples1780862093_A
Known GenesLINC00319, SIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587685
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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