A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689564



Internal ID113230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82456076..82480013hg38UCSC Ensembl
chr12:82849855..82873792hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3823938
hg1923938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497613
Supporting Variants
Samples
Known GenesMETTL25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689564
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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