A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198985



Internal ID20766025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6375477..6388121hg38UCSC Ensembl
chr19:6375488..6388132hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812645
hg1912645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519289
Supporting Variants
Samples
Known GenesGTF2F1, PSPN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198985
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00886


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