A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047305



Internal ID99380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45893251..45893251hg38UCSC Ensembl
chr11:45914802..45914802hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548576
Supporting Variants
Samples
Known GenesMAPK8IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047305
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.021186


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