A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514040



Internal ID20887390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105505570..105701160hg38UCSC Ensembl
chr14:105971907..106167497hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38195591
hg19195591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183907
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2, TMEM121
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514040
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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