A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551609



Internal ID22420519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59569714..59569714hg38UCSC Ensembl
chr17:57647075..57647075hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14373102
SamplesNA19240
Known GenesDHX40
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)nsv3551609
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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