A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472597



Internal ID250303
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 StatusM
Merged Variants
Supporting Variantsnssv16967373
Samples
Known GenesSLC30A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472597
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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