A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955248



Internal ID37475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127222231..127229161hg38UCSC Ensembl
chr4:128143386..128150316hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg386931
hg196931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469557
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955248
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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