A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720960



Internal ID144626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6758250..6759364hg38UCSC Ensembl
chr19:6758261..6759375hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516899
Supporting Variants
Samples
Known GenesSH2D3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720960
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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