A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416147



Internal ID22151775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107914287..107914287hg38UCSC Ensembl
chr12:108308064..108308064hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383941
hg193941
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551512
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14416147
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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