A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693855



Internal ID117521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21289983..21305711hg38UCSC Ensembl
chr14:21758142..21773870hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3815729
hg1915729
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560010
Supporting Variants
Samples
Known GenesRPGRIP1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693855
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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