A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14405281



Internal ID22300940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100286901..100289050hg38UCSC Ensembl
chr14:100753238..100755387hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382150
hg192150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228798
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14405281
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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