A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1744n223



Internal ID22804712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131581301..132223300hg38UCSC Ensembl
chr12:132065846..132706992hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38642000
hg19641147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6482382, nsv6492719
Samples
Known GenesDDX51, EP400, EP400NL, GALNT9, MMP17, NOC4L, PUS1, SFSWAP, SNORA49, ULK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1744n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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