A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946088



Internal ID22721573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51419771..51473800hg38UCSC Ensembl
chr19:51923025..51977054hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3854030
hg1954030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398235
Samples
Known GenesSIGLEC8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946088
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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