A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425764



Internal ID22165820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:19939827..19939827hg38UCSC Ensembl
chr6:19940058..19940058hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3536161
Supporting Variants
SamplesHG00514
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)nssv14425764
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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