A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394114



Internal ID173549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25795950..25795964hg38UCSC Ensembl
chr2:26018819..26018833hg19UCSC Ensembl
Cytoband2p23.3
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 Variantsnssv16911023
Samples
Known GenesASXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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