A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285918



Internal ID22384301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99927916..99928084hg38UCSC Ensembl
chr14:100394253..100394421hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464527, nssv14429937
SamplesHG00733, HG00514
Known GenesEML1
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)nsv3285918
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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