A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699046



Internal ID122712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81603110..81608592hg38UCSC Ensembl
chr14:82069454..82074936hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg385483
hg195483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496988
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699046
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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