A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420663



Internal ID22158383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97670618..97670618hg38UCSC Ensembl
chr2:98287081..98287081hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38491
hg19491
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523735
Supporting Variants
SamplesHG00514
Known GenesLINC01125
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420663
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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