A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696751



Internal ID120417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64957681..64960651hg38UCSC Ensembl
chr14:65424399..65427369hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382971
hg192971
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561017
Supporting Variants
Samples
Known GenesCHURC1-FNTB, RAB15
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696751
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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