A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022344



Internal ID18764878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19412632..19466572hg38UCSC Ensembl
Innerchr8:19270143..19324083hg19UCSC Ensembl
Innerchr8:19314423..19368363hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3853941
hg1953941
hg1853941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3684217
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)nsv1022344
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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