A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545480



Internal ID22414488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83204627..83204627hg38UCSC Ensembl
chr17:81152396..81152396hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14418746
SamplesHG00514
Known Genes
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)nsv3545480
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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