A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907676



Internal ID5899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111542835..111545873hg38UCSC Ensembl
chr1:112085457..112088495hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383039
hg193039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425151
Supporting Variants
Samples
Known GenesADORA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907676
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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