A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399511



Internal ID22310079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15103239..15103239hg38UCSC Ensembl
chr6:15103470..15103470hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3536887
Supporting Variants
SamplesNA19240
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)nssv14399511
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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