A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968423



Internal ID46266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76867212..76867263hg38UCSC Ensembl
chr5:76163037..76163088hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406780
Supporting Variants
Samples
Known GenesS100Z
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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