A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16932642



Internal ID22480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47821254..47823614hg38UCSC Ensembl
chr3:47862744..47865104hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382361
hg192361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443395
Supporting Variants
Samples
Known GenesDHX30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16932642
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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