A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454316



Internal ID232418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4725922..4729528hg38UCSC Ensembl
chr6:4726156..4729762hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg383607
hg193607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978812
Samples
Known GenesCDYL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454316
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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