A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6576347



Internal ID20949418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52785251..52785472hg38UCSC Ensembl
chr14:53251969..53252190hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18221612
Samples
Known GenesGNPNAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6576347
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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