A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685089



Internal ID108755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122408974..122411159hg38UCSC Ensembl
chr12:122893521..122895706hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382186
hg192186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498076
Supporting Variants
Samples
Known GenesCLIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685089
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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