A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408844



Internal ID188167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53539676..53539727hg38UCSC Ensembl
chr2:53766814..53766865hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913848
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408844
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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