A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424105



Internal ID22163368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107608877..107608983hg38UCSC Ensembl
chr12:108002654..108002760hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3288222
Supporting Variants
SamplesHG00514
Known GenesBTBD11
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)nssv14424105
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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