A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696044



Internal ID119710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72563377..72563377hg38UCSC Ensembl
chr14:73030085..73030085hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381
hg191
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562235
Supporting Variants
Samples
Known GenesRGS6
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696044
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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