A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970444



Internal ID47622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94376159..94376304hg38UCSC Ensembl
chr5:93711864..93712009hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466514
Supporting Variants
Samples
Known GenesKIAA0825
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970444
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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