A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470484



Internal ID248243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141252768..141308632hg38UCSC Ensembl
chr5:140632336..140688199hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3855865
hg1955864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974605
Samples
Known GenesSLC25A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470484
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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