A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543700



Internal ID22412752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2102804..2102804hg38UCSC Ensembl
chr17:2006098..2006098hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg384764
hg194764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384666
SamplesNA19240
Known GenesSMG6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543700
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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