A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189803



Internal ID20756843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81170350..81271610hg38UCSC Ensembl
chr16:81203955..81305215hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38101261
hg19101261
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6502785
Supporting Variants
Samples
Known GenesBCMO1, PKD1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189803
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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