A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964237



Internal ID43463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34948267..34948432hg38UCSC Ensembl
chr5:34948372..34948537hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460316
Supporting Variants
Samples
Known GenesDNAJC21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964237
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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