A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907677



Internal ID5900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111553817..111553868hg38UCSC Ensembl
chr1:112096439..112096490hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562080
Supporting Variants
Samples
Known GenesADORA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907677
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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