A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552325



Internal ID22421220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78175229..78175229hg38UCSC Ensembl
chr17:76171310..76171310hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419667
SamplesHG00514
Known GenesTK1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3552325
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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