A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562735



Internal ID335679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98740885..98740936hg38UCSC Ensembl
chr13:99393139..99393190hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692546
Samples
Known GenesSLC15A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562735
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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