A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587718



Internal ID16028441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43791051..43832957hg38UCSC Ensembl
Innerchr21:45210932..45252838hg19UCSC Ensembl
Innerchr21:44035360..44077266hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3841907
hg1941907
hg1841907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948044
Samples
Known GenesLOC284837, RRP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587718
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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