A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432113



Internal ID22174945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165761973..165762253hg38UCSC Ensembl
chr1:165731210..165731490hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3282082
Supporting Variants
SamplesHG00514
Known GenesTMCO1
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)nssv14432113
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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