A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423904



Internal ID202912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116915050..116915706hg38UCSC Ensembl
chr1:117457672..117458328hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38657
hg19657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889640
Samples
Known GenesPTGFRN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423904
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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