A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547448



Internal ID22416417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107914283..107914283hg38UCSC Ensembl
chr12:108308060..108308060hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383930
hg193930
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391393
SamplesNA19240
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)nsv3547448
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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