A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv579n223



Internal ID22803547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245897201..246642900hg38UCSC Ensembl
chr1:246060503..246806202hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38745700
hg19745700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6326881, nsv6317338
Samples
Known GenesCNST, LOC255654, SMYD3, TFB2M
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv579n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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