A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444474



Internal ID22240455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64822374..64822536hg38UCSC Ensembl
chr14:65289092..65289254hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209368
Supporting Variants
SamplesHG00733
Known GenesSPTB
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444474
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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