A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16288939



Internal ID20498157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:690368..690368hg38UCSC Ensembl
chr19:690368..690368hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4754149
Supporting Variants
Samples
Known GenesPRSS57
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16288939
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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