A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16930319



Internal ID20957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23557030..23563708hg38UCSC Ensembl
chr3:23598521..23605199hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg386679
hg196679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139193
Supporting Variants
Samples
Known GenesMIR548AC, UBE2E2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16930319
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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