A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196117



Internal ID20763157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81047501..81319200hg38UCSC Ensembl
chr16:81081106..81352805hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38271700
hg19271700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6513815
Supporting Variants
Samples
Known GenesBCMO1, C16orf46, GAN, GCSH, PKD1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196117
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02605


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