A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587480



Internal ID16028203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39199320..39329243hg38UCSC Ensembl
Innerchr21:40571246..40701169hg19UCSC Ensembl
Innerchr21:39493116..39623039hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38129924
hg19129924
hg18129924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946776
Samples
Known GenesBRWD1, BRWD1-AS1, BRWD1-IT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587480
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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