A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv50n223



Internal ID22803018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12768401..12941800hg38UCSC Ensembl
chr1:12828552..13001630hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38173400
hg19173079
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6318789, nsv6328023, nsv6317074, nsv6331674, nsv6332458, nsv6331285, nsv6318178
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv50n223
Frequency
Sample Size19652
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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