A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975531



Internal ID51080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:145244285..145244327hg38UCSC Ensembl
chr5:144623848..144623890hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547528
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975531
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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