A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504102



Internal ID280912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40028398..40028525hg38UCSC Ensembl
chr13:40602535..40602662hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687060
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504102
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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