A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190372



Internal ID20757412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30067318..30073978hg38UCSC Ensembl
chr16:30078639..30085299hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386661
hg196661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497462
Supporting Variants
Samples
Known GenesALDOA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190372
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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