A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483126



Internal ID15235600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:83687766..85887771hg38UCSC Ensembl
Outerchr8:84600001..86900000hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg382200006
hg192300000
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996306, nssv2996472, nssv2996354, nssv2996458, nssv2995941, nssv2996538, nssv2996421, nssv2996136, nssv2996368, nssv2995938, nssv2996336, nssv2996189, nssv2995900, nssv2996162, nssv2995955, nssv2996173, nssv2996019
Samples
Known GenesC8orf59, CA1, CA13, CA2, CA3, E2F5, LRRCC1, RALYL, REXO1L1, REXO1L2P
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483126
Frequency
Sample Size39
Observed Gain4
Observed Loss13
Observed Complex0
Frequencyn/a


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