A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695177



Internal ID118843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45250675..45253167hg38UCSC Ensembl
chr14:45719878..45722370hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg382493
hg192493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510867
Supporting Variants
Samples
Known GenesMIS18BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695177
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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