A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443886



Internal ID22239941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134220430..134220430hg38UCSC Ensembl
chr11:134090324..134090324hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524491
Supporting Variants
SamplesHG00733
Known GenesNCAPD3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14443886
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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