A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206001



Internal ID22354613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40853040..40853193hg38UCSC Ensembl
chr17:39009292..39009445hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406753
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206001
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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