A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402697



Internal ID182066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203027623..203027674hg38UCSC Ensembl
chr2:203892346..203892397hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924357
Samples
Known GenesNBEAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402697
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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