A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469513



Internal ID247297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:180640216..180834744hg38UCSC Ensembl
chr4:181561369..181755897hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38194529
hg19194529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16961106
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469513
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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