A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499772



Internal ID276730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33638250..33638382hg38UCSC Ensembl
chr13:34212387..34212519hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686771
Samples
Known GenesSTARD13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499772
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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