A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965290



Internal ID44180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40228216..40228216hg38UCSC Ensembl
chr5:40228318..40228318hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536853
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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