A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444355



Internal ID22240351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49886591..49886591hg38UCSC Ensembl
chr13:50460727..50460727hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381668
hg191668
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523380
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14444355
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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