A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181936



Internal ID22336827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44969849..44970992hg38UCSC Ensembl
chr19:45473106..45474249hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381144
hg191144
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407421
SamplesNA19240
Known GenesCLPTM1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3181936
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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