A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462208



Internal ID22214773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1511416..1511416hg38UCSC Ensembl
chr5:1511531..1511531hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537470
Supporting Variants
SamplesHG00733
Known GenesLPCAT1
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)nssv14462208
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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