A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434612



Internal ID22177624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114104040..114104109hg38UCSC Ensembl
chr3:113822887..113822956hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241110
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14434612
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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