A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471611



Internal ID249342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122321468..122327046hg38UCSC Ensembl
chr5:121657163..121662741hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg385579
hg195579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973390
Samples
Known GenesSNCAIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471611
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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