A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473104



Internal ID250799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175828520..175830585hg38UCSC Ensembl
chr5:175255523..175257588hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382066
hg192066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978715
Samples
Known GenesCPLX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473104
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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