A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18093630



Internal ID20660670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121015207..121015686hg38UCSC Ensembl
chr3:120734054..120734533hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6358201
Supporting Variants
Samples
Known GenesSTXBP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18093630
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00107


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