A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410039



Internal ID189357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101991037..101991037hg38UCSC Ensembl
chr2:102607499..102607499hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916395
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410039
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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