A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700599



Internal ID124265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105361274..105362147hg38UCSC Ensembl
chr14:105827611..105828484hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497840
Supporting Variants
Samples
Known GenesPACS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700599
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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