A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178653



Internal ID22335123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27823847..27824163hg38UCSC Ensembl
chr10:28112776..28113092hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv849n152
Supporting Variantsnssv14382272, nssv14437639
SamplesNA19240, HG00514
Known GenesARMC4
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)nsv3178653
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer