A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470602



Internal ID248357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116143624..116195878hg38UCSC Ensembl
chr5:115479321..115531575hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3852255
hg1952255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973747
Samples
Known GenesCOMMD10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470602
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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