A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4912n223



Internal ID22807880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75247001..75525400hg38UCSC Ensembl
chr3:75296152..75574551hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38278400
hg19278400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6364852, nsv6365965, nsv6360631, nsv6363420, nsv6359403
Samples
Known GenesFAM86DP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4912n223
Frequency
Sample Size19652
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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