A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507245



Internal ID283974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:103031462..103049964hg38UCSC Ensembl
chr13:103683812..103702314hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3818503
hg1918503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692251
Samples
Known GenesSLC10A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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