A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557596



Internal ID330689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12988189..12988194hg38UCSC Ensembl
chr12:13141123..13141128hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg386
hg196
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053248
Samples
Known GenesHEBP1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557596
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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