A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743589



Internal ID20519577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18892390..18892480hg38UCSC Ensembl
chr19:19003199..19003289hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16290667
Samples
Known GenesCERS1, GDF1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743589
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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