A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499778



Internal ID276736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27062454..27063618hg38UCSC Ensembl
chr13:27636591..27637755hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg381165
hg191165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686401
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499778
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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