A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188327



Internal ID22340186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223940770..223940917hg38UCSC Ensembl
chr2:224805487..224805634hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408399
SamplesNA19240
Known GenesWDFY1
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)nsv3188327
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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