A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050698



Internal ID101677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:107744576..107967708hg38UCSC Ensembl
chr11:107615302..107838434hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38223133
hg19223133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510052
Supporting Variants
Samples
Known GenesRAB39A, SLC35F2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050698
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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