A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547528



Internal ID321366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:145244285..145244327hg38UCSC Ensembl
chr5:144623848..144623890hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975531
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547528
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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