A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016482



Internal ID18759017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18977297..19481976hg38UCSC Ensembl
Innerchr8:18834807..19339487hg19UCSC Ensembl
Innerchr8:18879087..19383767hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38504680
hg19504681
hg18504681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3684203, nssv3684202
Samples
Known GenesCSGALNACT1, LOC100128993, PSD3, SH2D4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016482
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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