A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972310



Internal ID48900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113152606..113162194hg38UCSC Ensembl
chr5:112488303..112497891hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg389589
hg199589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458261
Supporting Variants
Samples
Known GenesMCC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972310
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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