A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587046



Internal ID16374455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14514598..14534269hg38UCSC Ensembl
Innerchr21:15886919..15906590hg19UCSC Ensembl
Innerchr21:14808790..14828461hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3819672
hg1919672
hg1819672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7764n54
Supporting Variantsnssv944950
Samples
Known GenesSAMSN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587046
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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