A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422211



Internal ID201259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76269894..76269945hg38UCSC Ensembl
chr17:74265975..74266026hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714703
Samples
Known GenesUBALD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422211
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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