A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375559



Internal ID22327291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41987271..41987271hg38UCSC Ensembl
chr12:42381073..42381073hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382751
hg192751
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557941
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375559
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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