A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409335



Internal ID22294370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46554265..46554317hg38UCSC Ensembl
chr3:46595755..46595807hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197435
Supporting Variants
SamplesNA19240
Known GenesLRRC2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409335
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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