A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057816



Internal ID106400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57130852..57130852hg38UCSC Ensembl
chr12:57524635..57524635hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421350
Supporting Variants
Samples
Known GenesLRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057816
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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