A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446058



Internal ID22241839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13675090..13675090hg38UCSC Ensembl
chr18:13675089..13675089hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543124
Supporting Variants
SamplesHG00733
Known GenesFAM210A
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)nssv14446058
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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