A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398381



Internal ID22456251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13107993..13108300hg38UCSC Ensembl
chr19:13218807..13219114hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5945430
Supporting Variants
Samples
Known GenesTRMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398381
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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