A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14415758



Internal ID22151331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123389131..123389131hg38UCSC Ensembl
chr12:123873678..123873678hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3555071
Supporting Variants
SamplesHG00514
Known GenesSETD8
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)nssv14415758
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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