A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17627300



Internal ID21819347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53114546..53126995hg38UCSC Ensembl
chr16:53148458..53160907hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3812450
hg1912450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6023950
Supporting Variants
Samples
Known GenesCHD9
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17627300
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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