A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17472272



Internal ID22530164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66968581..66969825hg38UCSC Ensembl
chr16:67002484..67003728hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381245
hg191245
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882913
Supporting Variants
Samples
Known GenesCES3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17472272
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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