A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249759



Internal ID22377365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57772672..57772764hg38UCSC Ensembl
chr14:58239390..58239482hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460949
SamplesHG00733
Known GenesSLC35F4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249759
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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