A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198308



Internal ID20765348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51608401..51642600hg38UCSC Ensembl
chr19:52111654..52145853hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3834200
hg1934200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523090
Supporting Variants
Samples
Known GenesSIGLEC14, SIGLEC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198308
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00056


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