A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187149



Internal ID22339580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163593893..163594196hg38UCSC Ensembl
chr6:164014925..164015228hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8201n152
Supporting Variantsnssv14454938
SamplesHG00733
Known Genes
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)nsv3187149
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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