A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201930



Internal ID22351165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171365162..171365309hg38UCSC Ensembl
chr3:171082951..171083098hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6245n152
Supporting Variantsnssv14409982
SamplesNA19240
Known GenesTNIK
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201930
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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