A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965492



Internal ID44318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54011587..54012620hg38UCSC Ensembl
chr5:53307417..53308450hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381034
hg191034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467290
Supporting Variants
Samples
Known GenesARL15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965492
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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