A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3177422



Internal ID22334420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47831931..47832298hg38UCSC Ensembl
chr19:48335188..48335555hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407435
SamplesNA19240
Known GenesCRX
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)nsv3177422
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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