A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445282



Internal ID223637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102492658..102492749hg38UCSC Ensembl
chr2:103109117..103109208hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916926
Samples
Known GenesSLC9A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445282
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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