A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462741



Internal ID240664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69219422..69225438hg38UCSC Ensembl
chr5:68515249..68521265hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967390
Samples
Known GenesMRPS36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462741
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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