A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847720



Internal ID22031363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68089371..68089371hg38UCSC Ensembl
chr16:68123274..68123274hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250385
Supporting Variants
Samples
Known GenesNFATC3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847720
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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