A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456404



Internal ID234473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34478349..34480073hg38UCSC Ensembl
chr6:34446126..34447850hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381725
hg191725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981295
Samples
Known GenesPACSIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456404
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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