A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986954



Internal ID58753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:97260921..97260972hg38UCSC Ensembl
chr6:97708797..97708848hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410172
Supporting Variants
Samples
Known GenesMIR548H3, MMS22L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986954
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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