A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610752



Internal ID16051475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19397305..19453985hg38UCSC Ensembl
Innerchr8:19254816..19311496hg19UCSC Ensembl
Innerchr8:19299096..19355776hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3856681
hg1956681
hg1856681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1107464
Samples
Known GenesCSGALNACT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610752
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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