A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970860



Internal ID47909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138970457..138970508hg38UCSC Ensembl
chr6:139291594..139291645hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397630
Supporting Variants
Samples
Known GenesREPS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970860
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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