A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399177



Internal ID22320035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168718163..168718163hg38UCSC Ensembl
chr5:168145168..168145168hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520851
Supporting Variants
SamplesNA19240
Known GenesSLIT3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399177
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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