A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18030436



Internal ID20597476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53179255..53179534hg38UCSC Ensembl
chr16:53213167..53213446hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6507336
Supporting Variants
Samples
Known GenesCHD9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18030436
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00046


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