A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462665



Internal ID240589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31956019..31956162hg38UCSC Ensembl
chr5:31956125..31956268hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964157
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462665
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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