A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546643



Internal ID22415628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27133964..27133964hg38UCSC Ensembl
chr16:27145285..27145285hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381385
hg191385
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419338
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3546643
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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