A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546726



Internal ID22415710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4462642..4462642hg38UCSC Ensembl
chr17:4365937..4365937hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14418600
SamplesHG00514
Known GenesSPNS3
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)nsv3546726
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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