A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472467



Internal ID250173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149741241..149741928hg38UCSC Ensembl
chr6:150062377..150063064hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38688
hg19688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989010
Samples
Known GenesNUP43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472467
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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