A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986528



Internal ID58457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99317541..99317592hg38UCSC Ensembl
chr6:99765417..99765468hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545031
Supporting Variants
Samples
Known GenesFAXC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986528
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009678


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