A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025271



Internal ID18767803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19577636..19717458hg38UCSC Ensembl
Innerchr8:19435147..19574969hg19UCSC Ensembl
Innerchr8:19479427..19619249hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38139823
hg19139823
hg18139823
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3760476
Samples
Known GenesCSGALNACT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025271
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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