A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16932735



Internal ID22546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51981924..51982383hg38UCSC Ensembl
chr3:52015940..52016399hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450606
Supporting Variants
Samples
Known GenesABHD14A-ACY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16932735
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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