A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967295



Internal ID45507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80221703..80229807hg38UCSC Ensembl
chr5:79517522..79525626hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg388105
hg198105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140486
Supporting Variants
Samples
Known GenesSERINC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967295
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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