A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512404



Internal ID288958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99302838..99302894hg38UCSC Ensembl
chr13:99955092..99955148hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692576
Samples
Known GenesGPR183, MIR548AN, UBAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512404
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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