A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969743



Internal ID47146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130848811..130848862hg38UCSC Ensembl
chr6:131169951..131170002hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412230
Supporting Variants
Samples
Known GenesEPB41L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969743
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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