A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504984



Internal ID281774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33161921..33163012hg38UCSC Ensembl
chr13:33736058..33737149hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg381092
hg191092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686749
Samples
Known GenesSTARD13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504984
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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