A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042037



Internal ID95724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1251026..1251026hg38UCSC Ensembl
chr11:1272256..1272256hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382763
hg192763
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551831
Supporting Variants
Samples
Known GenesMUC5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042037
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000636


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