A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18029902



Internal ID20596942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48092547..48093662hg38UCSC Ensembl
chr16:48126458..48127573hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6500046
Supporting Variants
Samples
Known GenesABCC12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18029902
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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