A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430392



Internal ID22172483
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 StatusS
Merged Variantsnsv3221401
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14430392
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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