A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448242



Internal ID22243730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36195648..36195648hg38UCSC Ensembl
chr19:36686550..36686550hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg382917
hg192917
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521912
Supporting Variants
SamplesHG00733
Known GenesZNF565
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)nssv14448242
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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