A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967373



Internal ID45554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69111287..69111599hg38UCSC Ensembl
chr5:68407114..68407426hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472597
Supporting Variants
Samples
Known GenesSLC30A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967373
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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