A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581848



Internal ID16022571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50711821..51118377hg38UCSC Ensembl
Innerchr2:50938959..51345515hg19UCSC Ensembl
Innerchr2:50792463..51199019hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38406557
hg19406557
hg18406557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv908372
Samples
Known GenesNRXN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581848
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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