A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16962788



Internal ID42515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:19533933..19535513hg38UCSC Ensembl
chr5:19534042..19535622hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg381581
hg191581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472842
Supporting Variants
Samples
Known GenesCDH18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16962788
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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