A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3273185



Internal ID22377639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64037668..64037750hg38UCSC Ensembl
chr14:64504386..64504468hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430388, nssv14405632, nssv14458612
SamplesNA19240, HG00733, HG00514
Known GenesMIR548AZ, SYNE2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3273185
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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