A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472220



Internal ID249936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31955361..31955796hg38UCSC Ensembl
chr5:31955467..31955902hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964155
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472220
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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