A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396579



Internal ID22303443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113642117..113642178hg38UCSC Ensembl
chr12:114079922..114079983hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3285382
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14396579
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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