A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058231



Internal ID106684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49098062..49098113hg38UCSC Ensembl
chr12:49491845..49491896hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427915
Supporting Variants
Samples
Known GenesLMBR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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