A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549855



Internal ID22418793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78478282..78478282hg38UCSC Ensembl
chr17:76474364..76474364hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419671
SamplesHG00514
Known GenesDNAH17
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)nsv3549855
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer