A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14405601



Internal ID22302498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49820975..49821503hg38UCSC Ensembl
chr14:50287693..50288221hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3288910
Supporting Variants
SamplesNA19240
Known GenesNEMF
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14405601
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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