A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456100



Internal ID234171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138589948..138600595hg38UCSC Ensembl
chr5:137925637..137936284hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3810648
hg1910648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974079
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456100
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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