A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977460



Internal ID52374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161316369..161317148hg38UCSC Ensembl
chr5:160743376..160744155hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461879
Supporting Variants
Samples
Known GenesGABRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977460
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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