A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587048



Internal ID16374457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14536321..14560289hg38UCSC Ensembl
Innerchr21:15908642..15932610hg19UCSC Ensembl
Innerchr21:14830513..14854481hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3823969
hg1923969
hg1823969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv944952
Samples
Known GenesSAMSN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587048
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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