A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468975



Internal ID246767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158342777..158346034hg38UCSC Ensembl
chr5:157769785..157773042hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg383258
hg193258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977374
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468975
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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