A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481994



Internal ID259459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59691183..59692355hg38UCSC Ensembl
chr10:61450941..61452113hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg381173
hg191173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035841
Samples
Known GenesSLC16A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481994
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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