A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488813



Internal ID21146366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64462701..64467800hg38UCSC Ensembl
chr14:64929419..64934518hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177751
Samples
Known GenesAKAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488813
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