A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18073694



Internal ID20640734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30696878..30701514hg38UCSC Ensembl
chr22:31092865..31097501hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg384637
hg194637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6543818
Supporting Variants
Samples
Known GenesOSBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18073694
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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