A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17411817



Internal ID22469687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54709888..54715451hg38UCSC Ensembl
chr5:54005716..54011279hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385564
hg195564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890699
Supporting Variants
Samples
Known GenesLOC102467080
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17411817
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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