A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376371



Internal ID22329862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155954589..155954589hg38UCSC Ensembl
chr1:155924380..155924380hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523679
Supporting Variants
SamplesNA19240
Known GenesARHGEF2
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)nssv14376371
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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