A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18030203



Internal ID20597243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55937339..55940042hg38UCSC Ensembl
chr16:55971251..55973954hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg382704
hg192704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497149
Supporting Variants
Samples
Known GenesCES5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18030203
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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