A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988973



Internal ID60073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149228555..149228606hg38UCSC Ensembl
chr6:149549691..149549742hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409162
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988973
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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