A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955331



Internal ID37530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128280269..128280301hg38UCSC Ensembl
chr4:129201424..129201456hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400333
Supporting Variants
Samples
Known GenesPGRMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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