A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968275



Internal ID46166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65139968..65139968hg38UCSC Ensembl
chr5:64435795..64435795hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540692
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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