A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448406



Internal ID226683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202440090..202440153hg38UCSC Ensembl
chr1:202409218..202409281hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895198
Samples
Known GenesPPP1R12B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448406
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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