A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587049



Internal ID16027772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14581782..14590010hg38UCSC Ensembl
Innerchr21:15954103..15962331hg19UCSC Ensembl
Innerchr21:14875974..14884202hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg388229
hg198229
hg188229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv944953
Samples
Known GenesSAMSN1, SAMSN1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587049
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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