A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015448



Internal ID18757982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19617204..19662856hg38UCSC Ensembl
Innerchr8:19474715..19520367hg19UCSC Ensembl
Innerchr8:19518995..19564647hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3845653
hg1945653
hg1845653
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3684220
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)nsv1015448
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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