A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18030005



Internal ID20597045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50275315..50278442hg38UCSC Ensembl
chr16:50309226..50312353hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383128
hg193128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6501683
Supporting Variants
Samples
Known GenesADCY7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18030005
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


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