A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697382



Internal ID121048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101831307..101831932hg38UCSC Ensembl
chr14:102297644..102298269hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513724
Supporting Variants
Samples
Known GenesPPP2R5C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697382
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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