A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv178n223



Internal ID22803146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45637122..45964189hg38UCSC Ensembl
chr1:46102794..46429861hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38327068
hg19327068
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6329621, nsv6330164
Samples
Known GenesGPBP1L1, IPP, MAST2, RPS15AP10, TMEM69
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv178n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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