A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512979



Internal ID289517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99381033..99395998hg38UCSC Ensembl
chr13:100033287..100048252hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3814966
hg1914966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692582
Samples
Known GenesMIR548AN, UBAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512979
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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