A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14374374



Internal ID22320901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157548334..157548334hg38UCSC Ensembl
chr1:157518124..157518124hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg386112
hg196112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535169
Supporting Variants
SamplesNA19240
Known GenesFCRL5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14374374
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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