A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600287



Internal ID16041010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172627918..172694311hg38UCSC Ensembl
Innerchr5:172054921..172121314hg19UCSC Ensembl
Innerchr5:171987526..172053919hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3866394
hg1966394
hg1866394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045481
Samples
Known GenesNEURL1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600287
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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