A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18045398



Internal ID20612438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13106545..13106891hg38UCSC Ensembl
chr19:13217359..13217705hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523127
Supporting Variants
Samples
Known GenesTRMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18045398
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00019


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