A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3939994



Internal ID21360063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5131563..5131563hg38UCSC Ensembl
chr19:5131574..5131574hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15186826
SamplesHG002
Known GenesKDM4B
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3939994
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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