A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421852



Internal ID22479722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53985704..53986397hg38UCSC Ensembl
chr5:53281534..53282227hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890236
Supporting Variants
Samples
Known GenesARL15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421852
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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