A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544947



Internal ID319037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35695141..35695141hg38UCSC Ensembl
chr13:36269278..36269278hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686858
Samples
Known GenesMIR548F5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544947
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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