A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539544



Internal ID314477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27819352..27819352hg38UCSC Ensembl
chr12:27972285..27972285hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055108
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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