A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423034



Internal ID22480904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54045744..54048574hg38UCSC Ensembl
chr5:53341574..53344404hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382831
hg192831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5891916
Supporting Variants
Samples
Known GenesARL15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423034
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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