A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408724



Internal ID22300413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142677037..142677375hg38UCSC Ensembl
chr2:143434606..143434944hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188389
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408724
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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