A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966577



Internal ID45040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:63192530..63199901hg38UCSC Ensembl
chr5:62488357..62495728hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg387372
hg197372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469280
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966577
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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