A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043486



Internal ID19132705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48397374..48422859hg38UCSC Ensembl
Innerchr13:48971510..48996995hg19UCSC Ensembl
Innerchr13:47869511..47894996hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3825486
hg1925486
hg1825486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1649n100
Supporting Variantsnssv3523447
Samples
Known GenesLPAR6, RB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043486
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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