A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183921



Internal ID20750961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30565008..30578175hg38UCSC Ensembl
chr16:30576329..30589496hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813168
hg1913168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6508122
Supporting Variants
Samples
Known GenesZNF688
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183921
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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