A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18073688



Internal ID20640728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30598901..30601400hg38UCSC Ensembl
chr22:30994888..30997387hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6548759
Supporting Variants
Samples
Known GenesPES1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18073688
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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