A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400378



Internal ID179760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37969779..37969830hg38UCSC Ensembl
chr1:38435451..38435502hg19UCSC Ensembl
Cytoband1p34.3
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 Variantsnssv16903768
Samples
Known GenesSF3A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400378
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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