A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18073982



Internal ID20641022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38581656..38585851hg38UCSC Ensembl
chr22:38977661..38981856hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384196
hg194196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6536732
Supporting Variants
Samples
Known GenesFAM227A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18073982
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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