A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556816



Internal ID329943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65049920..65049971hg38UCSC Ensembl
chr14:65516638..65516689hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696759
Samples
Known GenesCHURC1-FNTB, FNTB, MAX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556816
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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