A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056696



Internal ID105628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43459386..43459439hg38UCSC Ensembl
chr12:43853189..43853242hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513161
Supporting Variants
Samples
Known GenesADAMTS20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056696
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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