A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968533



Internal ID46342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81305144..81308559hg38UCSC Ensembl
chr5:80600963..80604378hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg383416
hg193416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455226
Supporting Variants
Samples
Known GenesRNU5D-1, RNU5E-1, ZCCHC9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968533
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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