A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454610



Internal ID22216626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:24905138..24905138hg38UCSC Ensembl
chr7:24944757..24944757hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg384175
hg194175
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520786
Supporting Variants
SamplesHG00733
Known GenesOSBPL3
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)nssv14454610
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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