A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417532



Internal ID22153807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75032863..75032863hg38UCSC Ensembl
chr14:75499566..75499566hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520804
Supporting Variants
SamplesHG00514
Known GenesMLH3
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)nssv14417532
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer