A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453731



Internal ID22248434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45400752..45401078hg38UCSC Ensembl
chr19:45904010..45904336hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179654
Supporting Variants
SamplesHG00733
Known GenesPPP1R13L
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14453731
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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