A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540854



Internal ID315550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12988189..12988189hg38UCSC Ensembl
chr12:13141123..13141123hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053249
Samples
Known GenesHEBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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