A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4736995



Internal ID20512950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16464849..16466667hg38UCSC Ensembl
chr19:16575660..16577478hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381819
hg191819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284371
Samples
Known GenesEPS15L1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4736995
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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