A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530974



Internal ID22400341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2080399..2080399hg38UCSC Ensembl
chr4:2082126..2082126hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397606
SamplesNA19240
Known GenesPOLN
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)nsv3530974
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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