A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221401



Internal ID22365802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65363265..65363319hg38UCSC Ensembl
chr14:65829983..65830037hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2647n152
Supporting Variantsnssv14430392, nssv14463094
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221401
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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