A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721294



Internal ID144960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10230425..10230517hg38UCSC Ensembl
chr19:10341101..10341193hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523944
Supporting Variants
Samples
Known GenesMIR4322, S1PR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721294
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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