A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420856



Internal ID22158663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6069996..6069996hg38UCSC Ensembl
chr19:6070007..6070007hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3554121
Supporting Variants
SamplesHG00514
Known GenesRFX2
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)nssv14420856
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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