A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048285



Internal ID100061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72908459..72914518hg38UCSC Ensembl
chr11:72619504..72625563hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg386060
hg196060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499663
Supporting Variants
Samples
Known GenesFCHSD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048285
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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