A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2799172



Internal ID21244510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49169392..49169392hg38UCSC Ensembl
chr19:49672649..49672649hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382758
hg192758
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13691847, nssv13693558
Samples
Known GenesTRPM4
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2799172
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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