A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409982



Internal ID22317807
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 StatusS
Merged Variantsnsv3201930
Supporting Variants
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)nssv14409982
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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