A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398348



Internal ID177745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33129260..33129311hg38UCSC Ensembl
chr9:33129258..33129309hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17021485
Samples
Known GenesB4GALT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398348
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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