A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500715



Internal ID277642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110983383..111122062hg38UCSC Ensembl
chr13:111635730..111774409hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38138680
hg19138680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694201
Samples
Known GenesARHGEF7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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