A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551487



Internal ID22420398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27828236..27828236hg38UCSC Ensembl
chr16:27839557..27839557hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390031
SamplesNA19240
Known GenesGSG1L
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)nsv3551487
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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