A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555488



Internal ID328644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61789118..61790760hg38UCSC Ensembl
chr14:62255836..62257478hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg381643
hg191643
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698049
Samples
Known GenesSNAPC1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555488
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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