A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556220



Internal ID22425051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24575786..24575786hg38UCSC Ensembl
chr16:24587107..24587107hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383418, nssv14445931
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3556220
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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