A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030738



Internal ID18773269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:20131683..20164639hg38UCSC Ensembl
Innerchr8:19989194..20022150hg19UCSC Ensembl
Innerchr8:20033474..20066430hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3832957
hg1932957
hg1832957
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3760478
Samples
Known GenesSLC18A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030738
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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