A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049447



Internal ID100856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102398891..102401538hg38UCSC Ensembl
chr11:102269622..102272269hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501108
Supporting Variants
Samples
Known GenesTMEM123
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049447
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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