A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7292n223



Internal ID22810260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18974797..19498235hg38UCSC Ensembl
chr8:18832307..19355746hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38523439
hg19523440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6429592, nsv6429340
Samples
Known GenesCSGALNACT1, LOC100128993, PSD3, SH2D4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv7292n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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