A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561017



Internal ID334006
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 StatusM
Merged Variants
Supporting Variantsnssv17696751
Samples
Known GenesCHURC1-FNTB, RAB15
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561017
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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