A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452743



Internal ID22247603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40212130..40212184hg38UCSC Ensembl
chr3:40253621..40253675hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204646
Supporting Variants
SamplesHG00733
Known GenesEIF1B-AS1, MYRIP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14452743
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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