A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401734



Internal ID181110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85459998..85460040hg38UCSC Ensembl
chr6:86169716..86169758hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985274
Samples
Known GenesNT5E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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