A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494241



Internal ID271392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43750093..43761100hg38UCSC Ensembl
chr11:43771643..43782650hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3811008
hg1911008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17044969
Samples
Known GenesHSD17B12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494241
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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