A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419143



Internal ID198288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167358927..167364539hg38UCSC Ensembl
chr1:167328164..167333776hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg385613
hg195613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892066
Samples
Known GenesPOU2F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419143
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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