A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15763041



Internal ID22097518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8098512..8098578hg38UCSC Ensembl
chr19:8163396..8163462hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4439815
Supporting Variants
Samples
Known GenesFBN3
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15763041
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer