A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431415



Internal ID210191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151452676..151457651hg38UCSC Ensembl
chr1:151425152..151430127hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384976
hg194976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890295
Samples
Known GenesPOGZ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431415
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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