A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030500



Internal ID18773031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27806175..27821659hg38UCSC Ensembl
Innerchr8:27663692..27679176hg19UCSC Ensembl
Innerchr8:27719611..27735095hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3815485
hg1915485
hg1815485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3685524
Samples
Known GenesPBK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030500
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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