A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464503



Internal ID242380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79263629..79265965hg38UCSC Ensembl
chr5:78559452..78561788hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382337
hg192337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966986
Samples
Known GenesJMY
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464503
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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