A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18073984



Internal ID20641024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38597992..38600877hg38UCSC Ensembl
chr22:38993997..38996882hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382886
hg192886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6553695
Supporting Variants
Samples
Known GenesFAM227A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18073984
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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