A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476804



Internal ID21134357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77608951..77684055hg38UCSC Ensembl
chr14:78075294..78150398hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3875105
hg1975105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184450
Samples
Known GenesALKBH1, SPTLC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476804
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer