A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553050



Internal ID22421939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49590050..49590050hg38UCSC Ensembl
chr16:49623961..49623961hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444663
SamplesHG00733
Known GenesZNF423
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)nsv3553050
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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