A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6481700



Internal ID21139253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64457558..64460593hg38UCSC Ensembl
chr14:64924276..64927311hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg383036
hg193036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181584
Samples
Known GenesMIR548AZ, MTHFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6481700
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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