A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239729



Internal ID22374504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57913412..57913624hg38UCSC Ensembl
chr12:58307195..58307407hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415708
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239729
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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