A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518134



Internal ID15445427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51246983..51262699hg38UCSC Ensembl
Innerchr19:51750238..51765953hg19UCSC Ensembl
Innerchr19:56442050..56457765hg18UCSC Ensembl
Innerchr19:56442050..56457765hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3815717
hg1915716
hg1815716
hg1715716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695551
Samples
Known GenesSIGLECL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518134
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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