A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547453



Internal ID321302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30351026..30351082hg38UCSC Ensembl
chr13:30925163..30925219hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686581
Samples
Known GenesLINC00426
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547453
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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