A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989075



Internal ID60143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:153041530..153041581hg38UCSC Ensembl
chr6:153362665..153362716hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410052
Supporting Variants
Samples
Known GenesRGS17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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