A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048385



Internal ID21957618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17797072..17797164hg38UCSC Ensembl
chr19:17907881..17907973hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17632469
Samples
Known GenesB3GNT3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048385
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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