A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250223



Internal ID22054833
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 StatusM
Merged Variants
Supporting Variantsnssv17848809
Samples
Known GenesPRSS36
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250223
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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