A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947375



Internal ID22722879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8092083..8093527hg38UCSC Ensembl
chr19:8156967..8158411hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381445
hg191445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403621
Samples
Known GenesFBN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947375
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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