A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976294



Internal ID51594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147583792..147583834hg38UCSC Ensembl
chr5:146963355..146963397hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409125
Supporting Variants
Samples
Known GenesJAKMIP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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