A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389449



Internal ID22294875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219901004..219901004hg38UCSC Ensembl
chr1:220074346..220074346hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541218
Supporting Variants
SamplesNA19240
Known GenesRNU5F-1
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)nssv14389449
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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