A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3463836



Internal ID18713686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792599..12858224hg38UCSC Ensembl
Innerchr1:12852748..12918079hg19UCSC Ensembl
Innerchr1:12775335..12840666hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3865626
hg1965332
hg1865332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005285
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3463836
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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