A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427767



Internal ID22485637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53919608..53921018hg38UCSC Ensembl
chr5:53215438..53216848hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905259
Supporting Variants
Samples
Known GenesARL15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427767
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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