A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462675



Internal ID240599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112526037..112526178hg38UCSC Ensembl
chr5:111861734..111861875hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971954
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462675
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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