A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971701



Internal ID48490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115307237..115307239hg38UCSC Ensembl
chr5:114642934..114642936hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547547
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971701
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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