A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419999



Internal ID199117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48248256..48248320hg38UCSC Ensembl
chr1:48713928..48713992hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902707
Samples
Known GenesSLC5A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419999
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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