A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030323



Internal ID18772854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6410707..6421990hg38UCSC Ensembl
Innerchr8:6268228..6279511hg19UCSC Ensembl
Innerchr8:6255636..6266919hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3811284
hg1911284
hg1811284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3677428, nssv3677429, nssv3677427
Samples
Known GenesMCPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030323
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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