A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689725



Internal ID113391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84878784..84879842hg38UCSC Ensembl
chr12:85272563..85273621hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501858
Supporting Variants
Samples
Known GenesSLC6A15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689725
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.008117


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