A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845603



Internal ID22029246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39149344..39149344hg38UCSC Ensembl
chr14:39618548..39618548hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258749
Supporting Variants
Samples
Known GenesTRAPPC6B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845603
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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