A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400702



Internal ID22322827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74827907..74827907hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38580
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524312
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14400702
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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