A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848809



Internal ID22032452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31141395..31141395hg38UCSC Ensembl
chr16:31152716..31152716hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250223
Supporting Variants
Samples
Known GenesPRSS36
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848809
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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