A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446642



Internal ID22242341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78163170..78163170hg38UCSC Ensembl
chr17:76159251..76159251hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520729
Supporting Variants
SamplesHG00733
Known GenesC17orf99
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14446642
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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