A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544204



Internal ID22413246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64038362..64038362hg38UCSC Ensembl
chr14:64505080..64505080hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445474, nssv14392026, nssv14417505
SamplesNA19240, HG00733, HG00514
Known GenesMIR548AZ, SYNE2
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)nsv3544204
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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