A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971211



Internal ID48154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143383571..143383622hg38UCSC Ensembl
chr6:143704708..143704759hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407850
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971211
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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