A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414522



Internal ID22149947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:28089367..28089367hg38UCSC Ensembl
chr10:28378296..28378296hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522508
Supporting Variants
SamplesHG00514
Known GenesMPP7
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)nssv14414522
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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