A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496567



Internal ID273640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:54212011..54247991hg38UCSC Ensembl
chr13:54786146..54822126hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3835981
hg1935981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687901
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496567
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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