A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531105



Internal ID22400469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2401218..2401218hg38UCSC Ensembl
chr1:2332657..2332657hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440839
SamplesHG00733
Known GenesRER1
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)nsv3531105
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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