A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17991373



Internal ID20558413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43757601..43761100hg38UCSC Ensembl
chr11:43779151..43782650hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472989
Supporting Variants
Samples
Known GenesHSD17B12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17991373
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00046


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