A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv553n206



Internal ID22755857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:833418..1428971hg38UCSC Ensembl
chrX:794153..1547864hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38595554
hg19753712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5419275, nsv5432954, nsv5418515
Samples
Known GenesASMTL, ASMTL-AS1, CRLF2, CSF2RA, IL3RA, MIR3690, MIR3690-2, SLC25A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv553n206
Frequency
Sample Size3202
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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