A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048627



Internal ID100289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78476711..78486359hg38UCSC Ensembl
chr11:78187757..78197405hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg389649
hg199649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513674
Supporting Variants
Samples
Known GenesNARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048627
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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