A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556970



Internal ID330088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139201663..139201714hg38UCSC Ensembl
chr5:138537352..138537403hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976090
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556970
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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