A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14445958



Internal ID22241753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30752235..30752235hg38UCSC Ensembl
chr16:30763556..30763556hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523482
Supporting Variants
SamplesHG00733
Known GenesPHKG2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14445958
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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