A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414323



Internal ID193605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27843438..27845211hg38UCSC Ensembl
chr1:28169949..28171722hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381774
hg191774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901218
Samples
Known GenesPPP1R8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414323
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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