A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048568



Internal ID100254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76692526..76692866hg38UCSC Ensembl
chr11:76403570..76403910hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507624
Supporting Variants
Samples
Known GenesGUCY2EP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048568
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.109619


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