A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053712



Internal ID103650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130418177..130418282hg38UCSC Ensembl
chr11:130288072..130288177hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502077
Supporting Variants
Samples
Known GenesADAMTS8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053712
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.047299


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