A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456577



Internal ID22250803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99549037..99549037hg38UCSC Ensembl
chr7:99146660..99146660hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520414
Supporting Variants
SamplesHG00733
Known GenesFAM200A
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)nssv14456577
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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