A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353222



Internal ID22578891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122208032..122208157hg38UCSC Ensembl
chr12:122692579..122692704hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929878
Supporting Variants
Samples
Known GenesDIABLO
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353222
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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