A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456306



Internal ID22214926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117924466..117924466hg38UCSC Ensembl
chr6:118245629..118245629hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542703
Supporting Variants
SamplesHG00733
Known GenesSLC35F1
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)nssv14456306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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