A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18073975



Internal ID20641015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38478471..38480689hg38UCSC Ensembl
chr22:38874476..38876694hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382219
hg192219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6545838
Supporting Variants
Samples
Known GenesKDELR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18073975
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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