A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049589



Internal ID100952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85645930..85652750hg38UCSC Ensembl
chr11:85356974..85363794hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg386821
hg196821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494209
Supporting Variants
Samples
Known GenesTMEM126A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049589
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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