A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040776



Internal ID94896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:118033354..118036205hg38UCSC Ensembl
chr10:119792865..119795716hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg382852
hg192852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497394
Supporting Variants
Samples
Known GenesRAB11FIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040776
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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