A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023510



Internal ID18766043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86416772..86862720hg38UCSC Ensembl
Innerchr8:87429001..87874948hg19UCSC Ensembl
Innerchr8:87498117..87944064hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38445949
hg19445948
hg18445948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689684
Samples
Known GenesCNGB3, CPNE3, RMDN1, WWP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023510
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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