A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13685389



Internal ID21207248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43780535..43780535hg38UCSC Ensembl
chr19:44284687..44284687hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2799149
Supporting Variants
Samples
Known GenesKCNN4
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13685389
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.416667


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