A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547551



Internal ID22416517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28604104..28604104hg38UCSC Ensembl
chr17:26931122..26931122hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14447270
SamplesHG00733
Known GenesSPAG5-AS1
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)nsv3547551
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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