A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954388



Internal ID21374458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5996252..5996252hg38UCSC Ensembl
chr19:5996263..5996263hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15186833
SamplesHG002
Known GenesLOC100128568, RFX2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3954388
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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