A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500557



Internal ID277490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:88825375..89178428hg38UCSC Ensembl
chr13:89477629..89830682hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38353054
hg19353054
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691084
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500557
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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