A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705786



Internal ID129452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23193826..23193877hg38UCSC Ensembl
chr16:23205147..23205198hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416982
Supporting Variants
Samples
Known GenesSCNN1G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006712


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