A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939568



Internal ID27100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127696494..127702775hg38UCSC Ensembl
chr3:127415337..127421618hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg386282
hg196282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448743
Supporting Variants
Samples
Known GenesMGLL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939568
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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