A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186196



Internal ID22339066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218247662..218247980hg38UCSC Ensembl
chr2:219112385..219112703hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296025
SamplesHG00512
Known GenesARPC2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3186196
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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