A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547214



Internal ID22416191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:510304..510304hg38UCSC Ensembl
chr17:413544..413544hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391862
SamplesNA19240
Known GenesVPS53
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)nsv3547214
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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