A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978279



Internal ID52909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178658893..178659970hg38UCSC Ensembl
chr5:178085894..178086971hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381078
hg191078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471517
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978279
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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