A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181252



Internal ID20748292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56421601..56425200hg38UCSC Ensembl
chr16:56455513..56459112hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505635
Supporting Variants
Samples
Known GenesAMFR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181252
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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