A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683685



Internal ID107351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179877427..179877531hg38UCSC Ensembl
chr1:179846562..179846666hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421494
Supporting Variants
Samples
Known GenesTOR1AIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683685
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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