A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547253



Internal ID22416230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56792658..56792658hg38UCSC Ensembl
chr17:54870019..54870019hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388721
SamplesNA19240
Known GenesC17orf67
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)nsv3547253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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