A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179933



Internal ID20746973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27513620..27735237hg38UCSC Ensembl
chr16:27524941..27746558hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38221618
hg19221618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6501228
Supporting Variants
Samples
Known GenesGTF3C1, KIAA0556
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179933
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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