A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457318



Internal ID235365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176394583..176395862hg38UCSC Ensembl
chr5:175821584..175822863hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381280
hg191280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977233
Samples
Known GenesCLTB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457318
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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